| 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 |
|---|
| 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 | 1/0 | t0012 | 3548 | 5 | 3 | 1 | 0 | 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 | 1/0 | a0001c0001t0012 | 5 | 3 | 1 | 0 | 0 | 0 | 4975 | 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 | -0.5780 | -0.5638 | -0.5289 | 0.0491 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG02258.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74499882 | + | 2 | 0.9540 | 0.9530 | 0.9529 | 0.0011 | donor | a0001c0001t0012 | HG02965.hp2 | homoSapiens_grch38.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74500033 | + | 2 | -0.9203 | -0.9177 | -0.9155 | 0.0047 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG02258.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74501329 | + | 3 | 0.9090 | 0.8978 | 0.8960 | 0.0130 | donor | a0001c0001t0012 | HG02258.hp1 | HG01167.hp1 HG02280.hp2 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74501472 | + | 3 | -0.9756 | -0.9611 | -0.9611 | 0.0145 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02280.hp2 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74505849 | + | 4 | 0.9499 | 0.9496 | 0.9493 | 0.0006 | donor | a0001c0001t0012 | HG02965.hp2 | HG02258.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74506011 | + | 4 | -0.9891 | -0.9886 | -0.9885 | 0.0006 | acceptor | a0001c0001t0012 | HG02965.hp2 | homoSapiens_grch38.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74508840 | + | 5 | 0.9315 | 0.9301 | 0.9301 | 0.0014 | donor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74508928 | + | 5 | -0.9680 | -0.9673 | -0.9673 | 0.0007 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74510813 | + | 6 | 0.9946 | 0.9946 | 0.9941 | 0.0005 | donor | a0001c0001t0012 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
HG02965.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74511013 | + | 6 | -0.9959 | -0.9946 | -0.9946 | 0.0013 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74512448 | + | 7 | 0.9914 | 0.9905 | 0.9905 | 0.0009 | donor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74512532 | + | 7 | -0.9948 | -0.9946 | -0.9946 | 0.0003 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74513559 | + | 8 | 0.9954 | 0.9954 | 0.9951 | 0.0003 | donor | a0001c0001t0012 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
HG02965.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74513719 | + | 8 | -0.9933 | -0.9933 | -0.9924 | 0.0009 | acceptor | a0001c0001t0012 | HG01167.hp1 HG02258.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
HG02965.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74516228 | + | 9 | 0.9955 | 0.9953 | 0.9953 | 0.0002 | donor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74516392 | + | 9 | -0.9697 | -0.9627 | -0.9616 | 0.0081 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG02258.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518499 | + | 10 | 0.9412 | 0.9244 | 0.9219 | 0.0193 | donor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74518640 | + | 10 | -0.9322 | -0.9207 | -0.9135 | 0.0187 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG02258.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518949 | + | 11 | 0.9940 | 0.9938 | 0.9937 | 0.0003 | donor | a0001c0001t0012 | HG02258.hp1 | HG02965.hp2 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74519096 | + | 11 | -0.9977 | -0.9976 | -0.9976 | 0.0001 | acceptor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 HG02280.hp2 homoSapiens_grch38.hp1 |
CNDP2 | chr18 | 74491363 | 74528454 |
| 74519999 | + | 12 | 0.7748 | 0.7695 | 0.7692 | 0.0057 | donor | a0001c0001t0012 | HG02965.hp2 | HG01167.hp1 homoSapiens_grch38.hp1 |
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 |
|---|
| 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 |