| geneid | 55748 |
|---|---|
| ensemblid | ENSG00000133313.15 |
| hgncid | 24437 |
| symbol | CNDP2 |
| name | carnosine dipeptidase 2 |
| refseq_nuc | NM_018235.3 |
| refseq_prot | NP_060705.2 |
| ensembl_nuc | ENST00000324262.9 |
| ensembl_prot | ENSP00000325548.4 |
| mane_status | MANE Select |
| chr | chr18 |
| start | 74496363 |
| end | 74523454 |
| strand | + |
| ver | v1.2 |
| region | chr18:74496363-74523454 |
| region5000 | chr18:74491363-74528454 |
| regionname0 | CNDP2_chr18_74496363_74523454 |
| regionname5000 | CNDP2_chr18_74491363_74528454 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr18:74521016
|
C | T | 0.8679 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(264): Show | 368 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*948C>T | 948 | |||||
|
chr18:74521017
|
A | G | 0.9127 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(283): Show | 387 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*949A>G | 949 | |||||
|
chr18:74521136
|
A | G | 0.9127 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(283): Show | 387 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*1068A>G | 1068 | |||||
|
chr18:74521339
|
TA | T | 0.9127 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(283): Show | 387 | 424 | -1 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*1273delA | 1273 | INFO_REALIGN_3_PRIME | ||||
|
chr18:74522015
|
C | A | 0.9080 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(382): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(281): Show | 385 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*1947C>A | 1947 | |||||
|
chr18:74522075
|
T | C | 0.9127 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(283): Show | 387 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*2007T>C | 2007 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 1/1 | a0001 | 475 | 313 | 82 | 56 | 124 | 16 | 33 | subcellular location copy fasta | chr18 | 74491363 | 74528454 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 1/1 | c0001 | 1428 | 286 | 62 | 55 | 121 | 16 | 30 | copy fasta | chr18 | 74491363 | 74528454 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 0/0 | t0018 | 3547 | 2 | 1 | 0 | 1 | 0 | 0 | copy fasta | chr18 | 74491363 | 74528454 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 1/1 | a0001c0001 | 286 | 62 | 55 | 121 | 16 | 30 | 1428 | copy fasta | chr18 | 74491363 | 74528454 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 0/0 | a0001c0001t0018 | 2 | 1 | 0 | 1 | 0 | 0 | 4974 | copy fasta | chr18 | 74491363 | 74528454 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 74496431 | + | 1 | -0.5671 | -0.5593 | -0.5515 | 0.0157 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74499882 | + | 2 | 0.9532 | 0.9521 | 0.9509 | 0.0023 | donor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74500033 | + | 2 | -0.9171 | -0.9168 | -0.9165 | 0.0006 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74501329 | + | 3 | 0.8984 | 0.8954 | 0.8923 | 0.0061 | donor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74501472 | + | 3 | -0.9623 | -0.9613 | -0.9603 | 0.0020 | acceptor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74505849 | + | 4 | 0.9496 | 0.9495 | 0.9494 | 0.0003 | donor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74506011 | + | 4 | -0.9891 | -0.9889 | -0.9886 | 0.0005 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74508840 | + | 5 | 0.9302 | 0.9301 | 0.9301 | 0.0001 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74508928 | + | 5 | -0.9678 | -0.9676 | -0.9673 | 0.0005 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74510813 | + | 6 | 0.9946 | 0.9943 | 0.9940 | 0.0006 | donor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74511013 | + | 6 | -0.9960 | -0.9953 | -0.9946 | 0.0014 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74512448 | + | 7 | 0.9920 | 0.9913 | 0.9905 | 0.0014 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74512532 | + | 7 | -0.9952 | -0.9949 | -0.9946 | 0.0006 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74513559 | + | 8 | 0.9959 | 0.9956 | 0.9954 | 0.0004 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74513719 | + | 8 | -0.9933 | -0.9928 | -0.9923 | 0.0010 | acceptor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74516228 | + | 9 | 0.9956 | 0.9955 | 0.9953 | 0.0003 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74516392 | + | 9 | -0.9691 | -0.9664 | -0.9636 | 0.0055 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518499 | + | 10 | 0.9234 | 0.9181 | 0.9128 | 0.0106 | donor | a0001c0001t0018 | HG02451.hp2 | NA18980.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518640 | + | 10 | -0.9458 | -0.9360 | -0.9262 | 0.0195 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518949 | + | 11 | 0.9951 | 0.9906 | 0.9861 | 0.0090 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74519096 | + | 11 | -0.9977 | -0.9972 | -0.9966 | 0.0011 | acceptor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74519999 | + | 12 | 0.7713 | 0.7625 | 0.7536 | 0.0177 | donor | a0001c0001t0018 | NA18980.hp1 | HG02451.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 74518941:splice 74518941:variant goto | c.1211-8C>A | 781417 | Benign | CNDP2:55748 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 3 | 4 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0018a0002c0002t0040 | a0001c0001t0009g0170a0001c0001t0009g0171a0001c0001t0018g0175a0002c0002t0040g0140 | HG01884.hp1 HG02451.hp2 HG02970.hp1 HG03209.hp2 |
LOW | chr18 | C | A | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr18:74511175
|
c.657+162C>T | Height | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0005a0001c0009a0001c0016others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(283): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
CNDP2 | rs8088885-? | + | MODIFIER | chr18 | C | T | |
|
chr18:74510230
|
c.457-583A>G | Spherical equivalent0.0844 | a0001a0003a0004a0005a0006others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0009a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(185): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
Genome-wide association meta-analysis highlights l others(56): Show |
41,073 European ancestry individuals, 2,610 Erasmu others(243): Show |
NR | CNDP2 | rs8084058-A | + | MODIFIER | chr18 | A | G |
|
chr18:74510230
|
c.457-583A>G | Beta-Ala-His dipeptidase levels0.12 | a0001a0003a0004a0005a0006others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0009a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(185): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | CNDP2 | rs8084058-A | + | MODIFIER | chr18 | A | G | |
|
chr18:74510230
|
c.457-583A>G | N-acetylserine levels0.057304062 | a0001a0003a0004a0005a0006others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0009a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(185): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
CNDP2 | rs8084058-A | + | MODIFIER | chr18 | A | G | |
|
chr18:74510230
|
c.457-583A>G | N-formylmethionine levels0.055290055 | a0001a0003a0004a0005a0006others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0009a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(185): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
CNDP2 | rs8084058-A | + | MODIFIER | chr18 | A | G | |
|
chr18:74496357
|
c.-167G>A | Valylleucine levels (advanced age)0.233 | a0001a0002a0004a0005a0009others(1): Show | a0001c0001a0001c0003a0001c0009a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0008a0001c0001t0011others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(208): Show |
Metagenomic and metabolomic remodeling in nonagena others(82): Show |
116 Han Chinese ancestry individuals/ | CNDP2 | rs6566811-? | + | MODIFIER | chr18 | G | A | |
|
chr18:74496357
|
c.-167G>A | Valylglycine levels (advanced age)0.1794 | a0001a0002a0004a0005a0009others(1): Show | a0001c0001a0001c0003a0001c0009a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0008a0001c0001t0011others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(208): Show |
Metagenomic and metabolomic remodeling in nonagena others(82): Show |
116 Han Chinese ancestry individuals/ | CNDP2 | rs6566811-? | + | MODIFIER | chr18 | G | A | |
|
chr18:74496357
|
c.-167G>A |
Valylglycine levels (elderly offspring)0 others(5): Show |
a0001a0002a0004a0005a0009others(1): Show | a0001c0001a0001c0003a0001c0009a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0008a0001c0001t0011others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(208): Show |
Metagenomic and metabolomic remodeling in nonagena others(82): Show |
232 Han Chinese ancestry individuals/ | CNDP2 | rs6566811-? | + | MODIFIER | chr18 | G | A | |
|
chr18:74496357
|
c.-167G>A |
Valylleucine levels (elderly offspring)0 others(5): Show |
a0001a0002a0004a0005a0009others(1): Show | a0001c0001a0001c0003a0001c0009a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0008a0001c0001t0011others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(208): Show |
Metagenomic and metabolomic remodeling in nonagena others(82): Show |
232 Han Chinese ancestry individuals/ | CNDP2 | rs6566811-? | + | MODIFIER | chr18 | G | A |