Product Details

SNP ID

rs41303402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:129203437 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGATCCAGCCCCTGCTGTGTGCC[A/G]TATACATGCCCAAGTGTGAGAATGA

Phenotype

MIM: 601500

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMO PubMed Links

Gene Details

Gene

SMO

Gene Name

smoothened, frizzled class receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005631.4	231	Missense Mutation	ATA,GTA	I129V	NP_005622.1
XM_011516522.2	231	UTR 5			XP_011514824.1

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