Product Details

SNP ID

rs151293476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74924835 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGACGTGTTCGCGCTGCTCACTG[C/T]GATGATGCTGCTGGCAACGCTCTGG

Phenotype

MIM: 607827 MIM: 607696

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OTOP2 PubMed Links

Gene Details

Gene

OTOP2

Gene Name

otopetrin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178160.2	295	Missense Mutation	GCG,GTG	A68V	NP_835454.1
XM_011525479.1	295	Missense Mutation	GCG,GTG	A68V	XP_011523781.1

Gene

USH1G

Gene Name

USH1 protein network component sans

There are no transcripts associated with this gene.

View Full Product Details