Product Details

SNP ID: rs145967207
Assay Type: Functionally tested
NCBI dbSNP Submissions: 3
Location: Chr.1:206110511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAAAAGCATAGAGATGGTGAAAGCC[T/A]CATTGGTGGAATCTACCAAGAGAGA
Phenotype: MIM: 600264 MIM: 616088
Polymorphism: T/A, Transversion substitution
Allele Nomenclature
Literature Links: AVPR1B PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000707.3	1111	Missense Mutation	GAG,GTG	E318V	NP_000698.1

There are no transcripts associated with this gene.