Product Details

SNP ID
rs11168409
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48106747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAGCAACTTGAGGACGGATTAGG[C/T]TAGACTCTGGCAAGATGTAGAACCT
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 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267594.1 Intron NP_001254523.1
NM_001267595.1 Intron NP_001254524.1
XM_006719361.3 Intron XP_006719424.1
XM_006719362.2 Intron XP_006719425.1
XM_011538244.2 Intron XP_011536546.1
XM_011538245.2 Intron XP_011536547.1
XM_017019229.1 Intron XP_016874718.1
XM_017019230.1 Intron XP_016874719.1
XM_017019231.1 Intron XP_016874720.1
XM_017019232.1 Intron XP_016874721.1
XM_017019233.1 Intron XP_016874722.1
XM_017019234.1 Intron XP_016874723.1
XM_017019235.1 Intron XP_016874724.1
XM_017019236.1 Intron XP_016874725.1
XM_017019237.1 Intron XP_016874726.1
XM_017019238.1 Intron XP_016874727.1
XM_017019239.1 Intron XP_016874728.1
XM_017019240.1 Intron XP_016874729.1

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