Product Details
- SNP ID
-
hCV2321393
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:3082795 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCGCGGCACTCGGGCTCGGTCAC[G/T]CAGCTCTCTGCCGGGAGGACGTGTG
- Phenotype
-
MIM: 192340
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AVP
PubMed Links
Gene Details
- Gene
- AVP
- Gene Name
- arginine vasopressin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000490.4 |
380 |
Nonsense Mutation |
TGA,TGC |
*110C |
NP_000481.2 |
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