Product Details

SNP ID

rs78960876

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:63594484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAATTTTCATTAGAATGGCAAC[A/G]TACCCAAAGACGCCCTTACGCAAGC

Phenotype

MIM: 171900

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFCAB7 PubMed Links

Gene Details

Gene

EFCAB7

Gene Name

EF-hand calcium binding domain 7

There are no transcripts associated with this gene.

Gene

PGM1

Gene Name

phosphoglucomutase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172818.1		Intron			NP_001166289.1
NM_001172819.1		Intron			NP_001166290.1
NM_002633.2		Intron			NP_002624.2

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