Product Details

SNP ID

rs144653742

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:63593714 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGAGGCCATCCAGCTCATCGCT[C/T]GCATCGCTGCCGCCAACGGGGTAAG

Phenotype

MIM: 171900

Polymorphism

C/T, 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	439	Intron			NP_001166289.1
NM_001172819.1	439	Intron			NP_001166290.1
NM_002633.2	439	Missense Mutation	CGC,TGC	R76C	NP_002624.2

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