Product Details

SNP ID
rs140895856
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48106115 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCGCCGCGAACCGGAACCGCCTT[C/T]ACAGCACCGGAAGAGTCGCTAGGTG
Phenotype
MIM: 610681 MIM: 612157
Polymorphism
C/T, Transition 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_000289.5 194 Intron NP_000280.1
NM_001166686.1 194 UTR 5 NP_001160158.1
NM_001166687.1 194 Intron NP_001160159.1
NM_001166688.1 194 Intron NP_001160160.1
XM_005268974.1 194 Intron XP_005269031.1
XM_005268975.1 194 UTR 5 XP_005269032.1
XM_005268976.3 194 UTR 5 XP_005269033.1
XM_005268977.1 194 Intron XP_005269034.1
XM_005268978.2 194 Intron XP_005269035.1
XM_005268979.1 194 Intron XP_005269036.1
XM_011538487.1 194 Intron XP_011536789.1
XM_011538488.2 194 Intron XP_011536790.1
XM_017019467.1 194 Intron XP_016874956.1
XM_017019468.1 194 Intron XP_016874957.1
XM_017019469.1 194 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_001267594.1 194 UTR 5 NP_001254523.1
NM_001267595.1 194 Intron NP_001254524.1
XM_006719361.3 194 Intron XP_006719424.1
XM_006719362.2 194 Intron XP_006719425.1
XM_011538244.2 194 Intron XP_011536546.1
XM_011538245.2 194 Intron XP_011536547.1
XM_017019229.1 194 Intron XP_016874718.1
XM_017019230.1 194 Intron XP_016874719.1
XM_017019231.1 194 Intron XP_016874720.1
XM_017019232.1 194 UTR 5 XP_016874721.1
XM_017019233.1 194 Intron XP_016874722.1
XM_017019234.1 194 Intron XP_016874723.1
XM_017019235.1 194 UTR 5 XP_016874724.1
XM_017019236.1 194 Intron XP_016874725.1
XM_017019237.1 194 UTR 5 XP_016874726.1
XM_017019238.1 194 Intron XP_016874727.1
XM_017019239.1 194 Intron XP_016874728.1
XM_017019240.1 194 Intron XP_016874729.1

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