Product Details

SNP ID

rs148454740

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:15410270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCAGATCAAGGACATGGAGAAGA[G/T]GTTCAAGCAGTAAGTGCCCGCGCGA

Phenotype

MIM: 616450

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EFHD2 PubMed Links

Gene Details

Gene

EFHD2

Gene Name

EF-hand domain family member D2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024329.5	374	Missense Mutation	AGG,ATG	R100M	NP_077305.2
XM_005246000.3	374	Missense Mutation	AGG,ATG	R100M	XP_005246057.1

Gene

FHAD1

Gene Name

forkhead associated phosphopeptide binding domain 1

There are no transcripts associated with this gene.

Gene

LOC101927441

Gene Name

uncharacterized LOC101927441

There are no transcripts associated with this gene.

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