Product Details

SNP ID

rs150478250

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:172211996 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCACTCCCTCTGCTGCATGCAAC[C/T]GTCTCTTCATGTGGAATACTGTGTC

Phenotype

MIM: 610174

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EFCAB9 PubMed Links

Gene Details

Gene

EFCAB9

Gene Name

EF-hand calcium binding domain 9

There are no transcripts associated with this gene.

Gene

UBTD2

Gene Name

ubiquitin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152277.2	665	Missense Mutation	CAG,CGG	Q180R	NP_689490.2
XM_017010022.1	665	Missense Mutation	CAG,CGG	Q136R	XP_016865511.1
XM_017010023.1	665	Missense Mutation	CAG,CGG	Q136R	XP_016865512.1

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