Product Details
- SNP ID
-
hCV27862070
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:80158163 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCCTCTCCAAACACCAGGATGTCT[G/T]CAATCAGGTAGGACATTGTGAAACG
- Phenotype
-
MIM: 613871
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FAH
PubMed Links
Gene Details
- Gene
- FAH
- Gene Name
- fumarylacetoacetate hydrolase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000137.2 |
349 |
Missense Mutation |
TGC,TTC |
C62F |
NP_000128.1 |
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