Dombrock > ART4
Genetic changes| Quick Filter: | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
| c.93G>A | p.Leu31Leu | Exon 2 | chr12:14995955 | chr12:14843021 | rs4106889023 | ||||
| c.144+2T>C | Intron None | chr12:14995902 | chr12:14842968 | rs587777833 | |||||
| c.145-2A>G | Intron None | chr12:14994089 | chr12:14841155 | rs587777831 | |||||
| c.185T>C | p.Phe62Ser | Exon 2 | chr12:14994047 | chr12:14841113 | rs150640567 | ||||
| c.201delA | p.Gly68Alafs*10 | Exon 2 | chr12:14994031 | chr12:14841097 | |||||
| c.219delT | p.Val73Valfs*5 | Exon 2 | chr12:14994013 | chr12:14841079 | |||||
| c.268C>T | p.Gln90Ter | Exon 2 | chr12:14993964 | chr12:14841030 | rs759901596 | ||||
| c.323G>T | p.Gly108Val | Exon 2 | chr12:14993909 | chr12:14840975 | rs28362797 | ||||
| c.343_350del | p.Met115Hisfs*18 | Exon 2 | chr12:14993882 | chr12:14840948 | rs587777832 | ||||
| c.350C>T | p.Thr117Ile | Exon 2 | chr12:14993882 | chr12:14840948 | rs28362798 | ||||
| c.370delT | p.Leu124Cysfs*5 | Exon 2 | chr12:14993862 | chr12:14840928 | rs2137544113 | ||||
| c.405C>A | p.Asp135Glu | Exon 2 | chr12:14993827 | chr12:14840893 | rs28362799 | ||||
| c.431C>A | p.Ala144Glu | Exon 2 | chr12:14993801 | chr12:14840867 | rs1355202105 | ||||
| c.432C>A | p.Ala144Glu | Exon 2 | chr12:14993800 | chr12:14840866 | rs1210078970 | ||||
| c.442C>T | p.Gln148Ter | Exon 2 | chr12:14993790 | chr12:14840856 | rs56340844 | ||||
| c.547T>G | p.Tyr183Asp | Exon 2 | chr12:14993685 | chr12:14840751 | |||||
| c.566C>T | p.Thr189Met | Exon 2 | chr12:14993666 | chr12:14840732 | rs28362800 | ||||
| c.674T>A | p.Leu225Gln | Exon 2 | chr12:14993558 | chr12:14840624 | rs532592412 | ||||
| c.730dupG | p.Glu244Glyfs*8 | Exon 2 | chr12:14993502 | chr12:14840568 | rs769684528 | ||||
| c.793A>G | p.Asn265Asp | Exon 2 | chr12:14993439 | chr12:14840505 | rs11276 | ||||
| ADP-ribosyltransferase 4 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome: | chr12 | ||||||||||
| Strand: | - | ||||||||||
| Genomic ref.: | NG_007477.2 | ||||||||||
| Transcript ref.: | NM_021071.4 | ||||||||||
| Protein ref.: | NP_066549.2 | ||||||||||
| Entrez GeneID: | 420 | ||||||||||
| Uniprot ID: | Q93070 | ||||||||||
| Further links: | GTEx Portal, gnomAD | ||||||||||
| hg19: |
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| hg38: |
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