Product Details

SNP ID
rs146274871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78105929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTGCAGATGAAGTTGTCAGTGT[C/T]GAAGTCTGTAGGGCAGGGGTTGGAC
Phenotype
MIM: 605564
Polymorphism
C/T, Transition 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_001271888.1 497 Missense Mutation AAC,GAC N75D NP_001258817.1
NM_001271889.1 497 Missense Mutation AAC,GAC N69D NP_001258818.1
NM_001301224.1 497 Missense Mutation AAC,GAC N123D NP_001288153.1
NM_006383.3 497 Missense Mutation AAC,GAC N118D NP_006374.1
XM_005254126.3 497 Missense Mutation AAC,GAC N118D XP_005254183.1
XM_006720374.2 497 Missense Mutation AAC,GAC N75D XP_006720437.1
XM_011521161.2 497 Missense Mutation AAC,GAC N75D XP_011519463.1
Gene
SH2D7
Gene Name
SH2 domain containing 7
There are no transcripts associated with this gene.

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