Product Details

SNP ID

rs142291012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74919782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTGCCCAGGCTGTCATCGTCCA[G/T]GCTGGGGGAGCTCTGCAGCCGACCC

Phenotype

MIM: 607827 MIM: 607696

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

OTOP2 PubMed Links

Gene Details

Gene

OTOP2

Gene Name

otopetrin 2

There are no transcripts associated with this gene.

Gene

USH1G

Gene Name

USH1 protein network component sans

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282489.2	1217	Missense Mutation	ATG,CTG	M249L	NP_001269418.1
NM_173477.4	1217	Missense Mutation	ATG,CTG	M352L	NP_775748.2
XM_011524296.2	1217	Missense Mutation	ATG,CTG	M249L	XP_011522598.1

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