Product Details

SNP ID

rs148554414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:124346649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAAGAGTCCACCAGGCCATGGAC[G/T]CAGTGGCTGTGTATCATGGCAAAAT

Phenotype

MIM: 300490

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SH2D1A PubMed Links

Gene Details

Gene

SH2D1A

Gene Name

SH2 domain containing 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114937.2	368	Missense Mutation	GCA,TCA	A3S	NP_001108409.1
NM_002351.4	368	Missense Mutation	GCA,TCA	A3S	NP_002342.1

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