Product Details

SNP ID

rs757556

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:48108710 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CAATTTATATGAAGCTTCAGAAACA[C/T]ATCTATGTATTTCGTCTTAACTTAA

Phenotype

MIM: 610681 MIM: 612157

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PFKM PubMed Links

Additional Information

For this assay, SNP(s) [rs17614932] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PFKM

Gene Name

phosphofructokinase, muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000289.5		Intron			NP_000280.1
NM_001166686.1		Intron			NP_001160158.1
NM_001166687.1		Intron			NP_001160159.1
NM_001166688.1		Intron			NP_001160160.1
XM_005268974.1		Intron			XP_005269031.1
XM_005268975.1		Intron			XP_005269032.1
XM_005268976.3		Intron			XP_005269033.1
XM_005268977.1		Intron			XP_005269034.1
XM_005268978.2		Intron			XP_005269035.1
XM_005268979.1		Intron			XP_005269036.1
XM_011538487.1		Intron			XP_011536789.1
XM_011538488.2		Intron			XP_011536790.1
XM_017019467.1		Intron			XP_016874956.1
XM_017019468.1		Intron			XP_016874957.1
XM_017019469.1		Intron			XP_016874958.1

Gene

SENP1

Gene Name

SUMO1/sentrin specific peptidase 1

There are no transcripts associated with this gene.

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