Product Details

SNP ID

rs139532717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105565352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCGGCTTGCCCGTTGCTGCTGAC[A/G]TTACGAGACCATTTACTTCAGTTGG

Phenotype

MIM: 610089

Polymorphism

A/G, Transition 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	1375	Silent Mutation	ACA,ACG	T654T	NP_068749.3
XM_005250524.3	1375	Silent Mutation	ACA,ACG	T313T	XP_005250581.1
XM_011516458.2	1375	Silent Mutation	ACA,ACG	T313T	XP_011514760.1
XM_017012496.1	1375	Silent Mutation	ACA,ACG	T576T	XP_016867985.1
XM_017012497.1	1375	Silent Mutation	ACA,ACG	T313T	XP_016867986.1
XM_017012498.1	1375	Silent Mutation	ACA,ACG	T313T	XP_016867987.1

View Full Product Details