Product Details

SNP ID

rs35971380

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105565393 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAGTTGGAGCAGCAGCTTTGTT[C/T]CTCCTTATTTAAAATTTTCTGGCAA

Phenotype

MIM: 610089

Polymorphism

C/T, 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	1416	Missense Mutation	TCC,TTC	S668F	NP_068749.3
XM_005250524.3	1416	Missense Mutation	TCC,TTC	S327F	XP_005250581.1
XM_011516458.2	1416	Missense Mutation	TCC,TTC	S327F	XP_011514760.1
XM_017012496.1	1416	Missense Mutation	TCC,TTC	S590F	XP_016867985.1
XM_017012497.1	1416	Missense Mutation	TCC,TTC	S327F	XP_016867986.1
XM_017012498.1	1416	Missense Mutation	TCC,TTC	S327F	XP_016867987.1

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