Product Details

SNP ID
rs150959222
Assay Type
Functionally Tested
NCBI dbSNP Submissions
11
Location
Chr.1:63525657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCCTCGAACAAAGAAATTTCCA[C/G]TAACTGAAGAGGAAATATTTTATAT
Phenotype
MIM: 605494
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EFCAB7 PubMed Links

Gene Details

Gene
EFCAB7
Gene Name
EF-hand calcium binding domain 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032437.3 335 Missense Mutation CTA,GTA L29V NP_115813.2
XM_005271274.3 335 Missense Mutation CTA,GTA L29V XP_005271331.1
XM_006710976.3 335 Missense Mutation CTA,GTA L42V XP_006711039.1
XM_006710977.1 335 Missense Mutation CTA,GTA L29V XP_006711040.1
XM_011542301.2 335 Missense Mutation CTA,GTA L42V XP_011540603.1
XM_017002548.1 335 Missense Mutation CTA,GTA L42V XP_016858037.1
Gene
ITGB3BP
Gene Name
integrin subunit beta 3 binding protein
There are no transcripts associated with this gene.

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