Product Details
- SNP ID
-
rs34324679
- Assay Type
- Validated
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:144109615 on Build GRCh38
- Set Membership
-
Validated
- Context Sequence [VIC/FAM]
- CGCAACTGCCCGCCAAGGTGCTCCA[A/C]GTGCAGGTGGCGCCCGCGTTGCCCG
- Phenotype
-
MIM: 610210
MIM: 611885
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MAF1
PubMed Links
Gene Details
- Gene
- MAF1
- Gene Name
- MAF1 homolog, negative regulator of RNA polymerase III
There are no transcripts associated with this gene.
- Gene
- SHARPIN
- Gene Name
- SHANK associated RH domain interactor
There are no transcripts associated with this gene.
- Gene
- WDR97
- Gene Name
- WD repeat domain 97
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001316309.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
NP_001303238.1 |
| XM_017013385.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868874.1 |
| XM_017013386.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868875.1 |
| XM_017013387.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q412H |
XP_016868876.1 |
| XM_017013388.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868877.1 |
| XM_017013389.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868878.1 |
| XM_017013390.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868879.1 |
| XM_017013391.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868880.1 |
| XM_017013392.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868881.1 |
| XM_017013393.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q427H |
XP_016868882.1 |
| XM_017013394.1 |
1334 |
Missense Mutation |
CAA,CAC |
Q362H |
XP_016868883.1 |
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