Product Details

SNP ID
rs139766063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105565596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCAGTTTGATATGACTCGGAAT[C/G]TTTTCCCTTTGTTTTCTCACTATTG
Phenotype
MIM: 610089
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EFCAB10 PubMed Links

Gene Details

Gene
EFCAB10
Gene Name
EF-hand calcium binding domain 10
There are no transcripts associated with this gene.

Gene
RINT1
Gene Name
RAD50 interactor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021930.4 1547 Missense Mutation CTT,GTT L712V NP_068749.3
XM_005250524.3 1547 Missense Mutation CTT,GTT L371V XP_005250581.1
XM_011516458.2 1547 Missense Mutation CTT,GTT L371V XP_011514760.1
XM_017012496.1 1547 Missense Mutation CTT,GTT L634V XP_016867985.1
XM_017012497.1 1547 Missense Mutation CTT,GTT L371V XP_016867986.1
XM_017012498.1 1547 Missense Mutation CTT,GTT L371V XP_016867987.1

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