Product Details

SNP ID

rs199903417

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16164737 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCACCTGAGGAAGTCTGGTGCCC[A/G]GAGGATCATGTTCTGGAAATCTTCC

Phenotype

MIM: 610645 MIM: 608349

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CIB3 PubMed Links

Gene Details

Gene

CIB3

Gene Name

calcium and integrin binding family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300922.1	573	Missense Mutation	CGG,TGG	R126W	NP_001287851.1
NM_054113.3	573	Missense Mutation	CGG,TGG	R175W	NP_473454.1

Gene

HSH2D

Gene Name

hematopoietic SH2 domain containing

There are no transcripts associated with this gene.

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