Product Details

SNP ID

rs200508337

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:78098051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTGCACCATTACCAGGAGGCAC[A/G]GCTCGAGCCCTTCAAAGAGATGCTG

Phenotype

MIM: 605564

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CIB2 PubMed Links

Gene Details

Gene

CIB2

Gene Name

calcium and integrin binding family member 2

There are no transcripts associated with this gene.

Gene

SH2D7

Gene Name

SH2 domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101404.1	389	Missense Mutation	CAG,CGG	Q130R	NP_001094874.1
XM_011521895.2	389	Missense Mutation	CAG,CGG	Q130R	XP_011520197.1
XM_011521896.2	389	Missense Mutation	CAG,CGG	Q97R	XP_011520198.1
XM_011521899.2	389	Missense Mutation	CAG,CGG	Q58R	XP_011520201.1
XM_017022487.1	389	Missense Mutation	CAG,CGG	Q111R	XP_016877976.1
XM_017022488.1	389	UTR 5			XP_016877977.1

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