Product Details

SNP ID

rs200019982

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:162399064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTTCCTTTAGGCTTGGAAAGAC[A/C]TGTTTTGGAGAACCTTCTGCAGTCT

Phenotype

MIM: 608510

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SH2D1B PubMed Links

Gene Details

Gene

SH2D1B

Gene Name

SH2 domain containing 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053282.4	344	Missense Mutation	CAG,CAT	Q74H	NP_444512.2

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