Product Details

SNP ID

rs142310988

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:162398957 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAACTCTAATTTCAATCCTCTC[C/T]ATCTCAAGCTGGGGCTGGTTCTCTT

Phenotype

MIM: 608510

Polymorphism

C/T, Transition 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	451	Nonsense Mutation	TAG,TGG	*110W	NP_444512.2

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