Product Details

SNP ID

rs191302756

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74925642 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGTTTCTTTGAGTGCCAGTCA[A/G]CCATCAAGATCCTGCACCCCCTCAT

Phenotype

MIM: 607827 MIM: 607696

Polymorphism

A/G, 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	492	Missense Mutation	ACC,GCC	T134A	NP_835454.1
XM_011525479.1	492	Missense Mutation	ACC,GCC	T134A	XP_011523781.1

Gene

USH1G

Gene Name

USH1 protein network component sans

There are no transcripts associated with this gene.

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