Product Details

SNP ID

rs145448362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74922991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGGGGTCATGCCATCCTCGTCG[A/G]GGGCATTCAGCTCCTTTCGGGTGGC

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	273	Intron			NP_835454.1
XM_011525479.1	273	UTR 5			XP_011523781.1

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	273	UTR 5			NP_001269418.1
NM_173477.4	273	Missense Mutation			NP_775748.2
XM_011524296.2	273	Intron			XP_011522598.1

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