Product Details

SNP ID
rs141808743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78105899 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGAGCCGGGCCAGCGTCAGCTCCA[C/G]GTCCTCCTTGCAGATGAAGTTGTCA
Phenotype
MIM: 605564
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CIB2 PubMed Links

Gene Details

Gene
CIB2
Gene Name
calcium and integrin binding family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271888.1 527 Missense Mutation CTG,GTG L85V NP_001258817.1
NM_001271889.1 527 Missense Mutation CTG,GTG L79V NP_001258818.1
NM_001301224.1 527 Missense Mutation CTG,GTG L133V NP_001288153.1
NM_006383.3 527 Missense Mutation CTG,GTG L128V NP_006374.1
XM_005254126.3 527 Missense Mutation CTG,GTG L128V XP_005254183.1
XM_006720374.2 527 Missense Mutation CTG,GTG L85V XP_006720437.1
XM_011521161.2 527 Missense Mutation CTG,GTG L85V XP_011519463.1
Gene
SH2D7
Gene Name
SH2 domain containing 7
There are no transcripts associated with this gene.

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