Product Details

SNP ID
rs147308100
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48105537 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGGGAGATACCACAGAGTAGGA[C/G]AGTTGGAGAAATGTTTACGTGAGAC
Phenotype
MIM: 610681 MIM: 612157
Polymorphism
C/G, 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_000289.5 314 Intron NP_000280.1
NM_001166686.1 314 Intron NP_001160158.1
NM_001166687.1 314 Intron NP_001160159.1
NM_001166688.1 314 Intron NP_001160160.1
XM_005268974.1 314 Intron XP_005269031.1
XM_005268975.1 314 Intron XP_005269032.1
XM_005268976.3 314 Intron XP_005269033.1
XM_005268977.1 314 Intron XP_005269034.1
XM_005268978.2 314 Intron XP_005269035.1
XM_005268979.1 314 Intron XP_005269036.1
XM_011538487.1 314 Intron XP_011536789.1
XM_011538488.2 314 Intron XP_011536790.1
XM_017019467.1 314 Intron XP_016874956.1
XM_017019468.1 314 Intron XP_016874957.1
XM_017019469.1 314 Intron XP_016874958.1
Gene
SENP1
Gene Name
SUMO1/sentrin specific peptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267594.1 314 Intron NP_001254523.1
NM_001267595.1 314 UTR 5 NP_001254524.1
XM_006719361.3 314 UTR 5 XP_006719424.1
XM_006719362.2 314 Intron XP_006719425.1
XM_011538244.2 314 UTR 5 XP_011536546.1
XM_011538245.2 314 UTR 5 XP_011536547.1
XM_017019229.1 314 UTR 5 XP_016874718.1
XM_017019230.1 314 UTR 5 XP_016874719.1
XM_017019231.1 314 UTR 5 XP_016874720.1
XM_017019232.1 314 Intron XP_016874721.1
XM_017019233.1 314 UTR 5 XP_016874722.1
XM_017019234.1 314 UTR 5 XP_016874723.1
XM_017019235.1 314 Intron XP_016874724.1
XM_017019236.1 314 UTR 5 XP_016874725.1
XM_017019237.1 314 Intron XP_016874726.1
XM_017019238.1 314 UTR 5 XP_016874727.1
XM_017019239.1 314 UTR 5 XP_016874728.1
XM_017019240.1 314 UTR 5 XP_016874729.1

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