Product Details

SNP ID

rs200400676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74927665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCCACCCCTGACCCCAAACAG[C/G]TGTGGTCTCATGTTCACACTCACCA

Phenotype

MIM: 607827 MIM: 607828 MIM: 607696

Polymorphism

C/G, Transversion 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	602	Missense Mutation	TGC,TGG	C170W	NP_835454.1
XM_011525479.1	602	Missense Mutation	TGC,TGG	C170W	XP_011523781.1

Gene

OTOP3

Gene Name

otopetrin 3

There are no transcripts associated with this gene.

Gene

USH1G

Gene Name

USH1 protein network component sans

There are no transcripts associated with this gene.

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