| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr18:74520377
|
C | T | 0.8797 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(269): Show | 373 | 424 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 12/12 | c.*309C>T | 309 | |||||
|
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 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr18:74497301
|
G | A | intron_variant | MODIFIER | HG03490.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163 | 2 | 424 | 0.0047 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 1/11 | c.-93+870G>A | ||||||
|
chr18:74503073
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(173): Show | 254 | 424 | 0.5991 | 1 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 3/11 | c.204+1614dupT | INFO_REALIGN_3_PRIME | |||||
|
chr18:74505564
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(414): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(305): Show | 417 | 424 | 0.9835 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 3/11 | c.205-285G>A | ||||||
|
chr18:74518003
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(397): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(289): Show | 400 | 424 | 0.9434 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | c.1069-496G>A | ||||||
|
chr18:74518217
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(182): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 185 | 424 | 0.4363 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | c.1069-282A>G | ||||||
|
chr18:74518453
|
G | A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01109.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0039others(25): Show | 38 | 424 | 0.0896 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | c.1069-46G>A | ||||||
|
chr18:74518737
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(267): Show | 374 | 424 | 0.8821 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | c.1210+97G>A | ||||||
|
chr18:74518824
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(408): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(302): Show | 411 | 424 | 0.9693 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | c.1211-125G>A | ||||||
|
chr18:74518940
|
T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | c.1211-3dupC | INFO_REALIGN_3_PRIME | |||||
|
chr18:74519264
|
C | T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01109.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0039others(26): Show | 39 | 424 | 0.0920 | 0 | CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 11/11 | c.1358+168C>T |
| 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 | 0/1 | t0001 | 3547 | 183 | 21 | 35 | 98 | 10 | 18 | copy fasta | chr18 | 74491363 | 74528454 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 0/0 | g0162 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0/1 | a0001c0001t0001 | 174 | 21 | 34 | 91 | 10 | 17 | 4974 | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CNDP2 | 0/0 | a0001c0001t0001g0162 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | -0.5315 | -0.5315 | -0.5315 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74499882 | + | 2 | 0.9534 | 0.9534 | 0.9534 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74500033 | + | 2 | -0.9181 | -0.9181 | -0.9181 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74501329 | + | 3 | 0.8960 | 0.8960 | 0.8960 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74501472 | + | 3 | -0.9611 | -0.9611 | -0.9611 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74505849 | + | 4 | 0.9499 | 0.9499 | 0.9499 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74506011 | + | 4 | -0.9884 | -0.9884 | -0.9884 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74508840 | + | 5 | 0.9299 | 0.9299 | 0.9299 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74508928 | + | 5 | -0.9672 | -0.9672 | -0.9672 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74510813 | + | 6 | 0.9946 | 0.9946 | 0.9946 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74511013 | + | 6 | -0.9946 | -0.9946 | -0.9946 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74512448 | + | 7 | 0.9905 | 0.9905 | 0.9905 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74512532 | + | 7 | -0.9946 | -0.9946 | -0.9946 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74513559 | + | 8 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74513719 | + | 8 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74516228 | + | 9 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74516392 | + | 9 | -0.9622 | -0.9622 | -0.9622 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518499 | + | 10 | 0.9060 | 0.9060 | 0.9060 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518640 | + | 10 | -0.9457 | -0.9457 | -0.9457 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74518949 | + | 11 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74519096 | + | 11 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.hp1 | CNDP2 | chr18 | 74491363 | 74528454 |
| 74519999 | + | 12 | 0.7697 | 0.7697 | 0.7697 | 0.0000 | donor | a0001c0001t0001g0162 | HG03490.hp1 | HG03490.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 |
|---|