Product Details

SNP ID

rs144554384

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:63523625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGCTGCGCTTCCTTGTTTGTGAG[C/T]TAGAATTAGGTAGCAAACAGCTCGC

Phenotype

MIM: 605494

Polymorphism

C/T, Transition 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	325	UTR 5			NP_115813.2
XM_005271274.3	325	UTR 5			XP_005271331.1
XM_006710976.3	325	Intron			XP_006711039.1
XM_006710977.1	325	Intron			XP_006711040.1
XM_011542301.2	325	Intron			XP_011540603.1
XM_017002548.1	325	Intron			XP_016858037.1

Gene

ITGB3BP

Gene Name

integrin subunit beta 3 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206739.1	325	Intron			NP_001193668.1
NM_014288.4	325	Intron			NP_055103.3
XM_006710514.3	325	Intron			XP_006710577.3
XM_006710515.3	325	Intron			XP_006710578.3
XM_017000853.1	325	Intron			XP_016856342.1
XM_017000854.1	325	Intron			XP_016856343.1
XM_017000855.1	325	Intron			XP_016856344.1
XM_017000856.1	325	Intron			XP_016856345.1
XM_017000857.1	325	Intron			XP_016856346.1

View Full Product Details