Product Details

SNP ID
rs148637456
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:46678514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAATGAGTATCTTCCATCTCCAT[C/T]GGAATCAAATGCTCTCAAGCTCTCT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EFCAB14 PubMed Links

Gene Details

Gene
EFCAB14
Gene Name
EF-hand calcium binding domain 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014774.2 2412 Missense Mutation AAT,GAT N479D NP_055589.1
Gene
EFCAB14-AS1
Gene Name
EFCAB14 antisense RNA 1
There are no transcripts associated with this gene.

Gene
TEX38
Gene Name
testis expressed 38
There are no transcripts associated with this gene.

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