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GTGGCAGTTAAGGGGATTTTCATAA[A/C]CTGAGCAGGAGGGTCCAGACGTTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 610681 MIM: 612157 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PFKM PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
PFKM - phosphofructokinase, muscle | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000289.5 | 395 | Intron | NP_000280.1 | |||
NM_001166686.1 | 395 | Intron | NP_001160158.1 | |||
NM_001166687.1 | 395 | Intron | NP_001160159.1 | |||
NM_001166688.1 | 395 | Intron | NP_001160160.1 | |||
XM_005268974.1 | 395 | Intron | XP_005269031.1 | |||
XM_005268975.1 | 395 | Intron | XP_005269032.1 | |||
XM_005268976.3 | 395 | Intron | XP_005269033.1 | |||
XM_005268977.1 | 395 | Intron | XP_005269034.1 | |||
XM_005268978.2 | 395 | Intron | XP_005269035.1 | |||
XM_005268979.1 | 395 | Intron | XP_005269036.1 | |||
XM_011538487.1 | 395 | Intron | XP_011536789.1 | |||
XM_011538488.2 | 395 | Intron | XP_011536790.1 | |||
XM_017019467.1 | 395 | Intron | XP_016874956.1 | |||
XM_017019468.1 | 395 | Intron | XP_016874957.1 | |||
XM_017019469.1 | 395 | Intron | XP_016874958.1 |
SENP1 - SUMO1/sentrin specific peptidase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267594.1 | 395 | Intron | NP_001254523.1 | |||
NM_001267595.1 | 395 | Intron | NP_001254524.1 | |||
XM_006719361.3 | 395 | UTR 5 | XP_006719424.1 | |||
XM_006719362.2 | 395 | Intron | XP_006719425.1 | |||
XM_011538244.2 | 395 | UTR 5 | XP_011536546.1 | |||
XM_011538245.2 | 395 | UTR 5 | XP_011536547.1 | |||
XM_017019229.1 | 395 | UTR 5 | XP_016874718.1 | |||
XM_017019230.1 | 395 | UTR 5 | XP_016874719.1 | |||
XM_017019231.1 | 395 | Intron | XP_016874720.1 | |||
XM_017019232.1 | 395 | Intron | XP_016874721.1 | |||
XM_017019233.1 | 395 | UTR 5 | XP_016874722.1 | |||
XM_017019234.1 | 395 | Intron | XP_016874723.1 | |||
XM_017019235.1 | 395 | Intron | XP_016874724.1 | |||
XM_017019236.1 | 395 | Intron | XP_016874725.1 | |||
XM_017019237.1 | 395 | Intron | XP_016874726.1 | |||
XM_017019238.1 | 395 | Intron | XP_016874727.1 | |||
XM_017019239.1 | 395 | UTR 5 | XP_016874728.1 | |||
XM_017019240.1 | 395 | Intron | XP_016874729.1 |