Product Details

SNP ID

rs2347693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:134650981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCAGATTTCATTTCCCTTGAGA[A/C]CTGTTCCTTTTTACTTTGTTAAAGA

Phenotype

MIM: 613896

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BPGM PubMed Links

Gene Details

Gene

BPGM

Gene Name

bisphosphoglycerate mutase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293085.1		Intron			NP_001280014.1
NM_001724.4		Intron			NP_001715.1
NM_199186.2		Intron			NP_954655.1
XM_011516527.1		Intron			XP_011514829.1

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