Product Details

SNP ID
rs11609399
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48107378 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTCTATTTCTAGGAGGCAGCCATGC[A/T]TAAAGACGAGTTTCATCTGAAATTT
Phenotype
MIM: 610681 MIM: 612157
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PFKM PubMed Links

Gene Details

Gene
PFKM
Gene Name
phosphofructokinase, muscle
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000289.5 14 Intron NP_000280.1
NM_001166686.1 14 Missense Mutation CAT,CTT H2L NP_001160158.1
NM_001166687.1 14 Intron NP_001160159.1
NM_001166688.1 14 Intron NP_001160160.1
XM_005268974.1 14 Missense Mutation CAT,CTT H2L XP_005269031.1
XM_005268975.1 14 Missense Mutation CAT,CTT H2L XP_005269032.1
XM_005268976.3 14 Missense Mutation CAT,CTT H2L XP_005269033.1
XM_005268977.1 14 Missense Mutation CAT,CTT H2L XP_005269034.1
XM_005268978.2 14 Missense Mutation CAT,CTT H2L XP_005269035.1
XM_005268979.1 14 Missense Mutation CAT,CTT H2L XP_005269036.1
XM_011538487.1 14 Missense Mutation CAT,CTT H2L XP_011536789.1
XM_011538488.2 14 Intron XP_011536790.1
XM_017019467.1 14 Missense Mutation CAT,CTT H2L XP_016874956.1
XM_017019468.1 14 Missense Mutation CAT,CTT H2L XP_016874957.1
XM_017019469.1 14 Missense Mutation CAT,CTT H2L XP_016874958.1
Gene
SENP1
Gene Name
SUMO1/sentrin specific peptidase 1
There are no transcripts associated with this gene.

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