Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608455 MIM: 601516 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PYGM PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PYGM - phosphorylase, glycogen, muscle | ||||||
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There are no transcripts associated with this gene. |
SF1 - splicing factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178030.1 | 1625 | Silent Mutation | CCA,CCG | P,P 624 | NP_001171501.1 | |
NM_001178031.1 | 1625 | Silent Mutation | CCA,CCG | P,P 473 | NP_001171502.1 | |
NM_004630.3 | 1625 | Silent Mutation | CCA,CCG | P,P 499 | NP_004621.2 | |
NM_201995.2 | 1625 | Silent Mutation | CCA,CCG | P,P 499 | NP_973724.1 | |
NM_201997.2 | 1625 | Missense Mutation | ATG,GTG | M,V 501 | NP_973726.2 | |
NM_201998.2 | 1625 | Silent Mutation | CCA,CCG | P,P 499 | NP_973727.1 | |
XM_011545244.1 | 1625 | Silent Mutation | CCA,CCG | P,P 473 | XP_011543546.1 | |
XM_011545245.1 | 1625 | Missense Mutation | ATG,GTG | M,V 475 | XP_011543547.1 | |
XM_011545246.1 | 1625 | Missense Mutation | ATG,GTG | M,V 472 | XP_011543548.1 | |
XM_011545247.1 | 1625 | Missense Mutation | ATG,GTG | M,V 475 | XP_011543549.1 | |
XM_011545248.1 | 1625 | Missense Mutation | ATG,GTG | M,V 475 | XP_011543550.1 | |
XM_017018244.1 | 1625 | Silent Mutation | CCA,CCG | P,P 473 | XP_016873733.1 | |
XM_017018245.1 | 1625 | Silent Mutation | CCA,CCG | P,P 503 | XP_016873734.1 | |
XM_017018246.1 | 1625 | Missense Mutation | ATG,GTG | M,V 472 | XP_016873735.1 | |
XM_017018247.1 | 1625 | Missense Mutation | ATG,GTG | M,V 498 | XP_016873736.1 | |
XM_017018248.1 | 1625 | Missense Mutation | ATG,GTG | M,V 498 | XP_016873737.1 | |
XM_017018249.1 | 1625 | Silent Mutation | CCA,CCG | P,P 384 | XP_016873738.1 | |
XM_017018250.1 | 1625 | Silent Mutation | CCA,CCG | P,P 384 | XP_016873739.1 | |
XM_017018251.1 | 1625 | Silent Mutation | CCA,CCG | P,P 384 | XP_016873740.1 |