Product Details

SNP ID

rs17125106

Assay Type

Functionally tested

NCBI dbSNP Submissions

24

Location

Chr.1:63525651 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCAGAGAGTCCTCGAACAAAGAAA[A/T]TTCCACTAACTGAAGAGGAAATATT

Phenotype

MIM: 605494

Polymorphism

A/T, 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	329	Missense Mutation	ATT,TTT	I27F	NP_115813.2
XM_005271274.3	329	Missense Mutation	ATT,TTT	I27F	XP_005271331.1
XM_006710976.3	329	Missense Mutation	ATT,TTT	I40F	XP_006711039.1
XM_006710977.1	329	Missense Mutation	ATT,TTT	I27F	XP_006711040.1
XM_011542301.2	329	Missense Mutation	ATT,TTT	I40F	XP_011540603.1
XM_017002548.1	329	Missense Mutation	ATT,TTT	I40F	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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