Product Details

SNP ID

rs146852075

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:129788554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACAGGAAGATGGGCAAGATGATG[A/G]TGAAGGCCCTGTCAGAAGAGATGGT

Phenotype

MIM: 300441

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SASH3 PubMed Links

Gene Details

Gene

SASH3

Gene Name

SAM and SH3 domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018990.3	459	Missense Mutation	ATG,GTG	M93V	NP_061863.1
XM_006724763.1	459	Missense Mutation	ATG,GTG	M93V	XP_006724826.1

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