Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGGTCACCAATGGGCGCGGAAAGT[C/T]CTCACTCTCATGGCTCGGGCCATCG
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1959 | Silent Mutation | AGA,AGG | R,R 667 | NP_001171501.1 | |
NM_001178031.1 | 1959 | UTR 3 | NP_001171502.1 | |||
NM_004630.3 | 1959 | UTR 3 | NP_004621.2 | |||
NM_201995.2 | 1959 | Missense Mutation | AAC,GAC | N,D 611 | NP_973724.1 | |
NM_201997.2 | 1959 | Missense Mutation | AAC,GAC | N,D 544 | NP_973726.2 | |
NM_201998.2 | 1959 | Silent Mutation | AGA,AGG | R,R 542 | NP_973727.1 | |
XM_011545244.1 | 1959 | Missense Mutation | AAC,GAC | N,D 585 | XP_011543546.1 | |
XM_011545245.1 | 1959 | UTR 3 | XP_011543547.1 | |||
XM_011545246.1 | 1959 | UTR 3 | XP_011543548.1 | |||
XM_011545247.1 | 1959 | UTR 3 | XP_011543549.1 | |||
XM_011545248.1 | 1959 | Missense Mutation | AAC,GAC | N,D 518 | XP_011543550.1 | |
XM_017018244.1 | 1959 | UTR 3 | XP_016873733.1 | |||
XM_017018245.1 | 1959 | UTR 3 | XP_016873734.1 | |||
XM_017018246.1 | 1959 | Missense Mutation | AAC,GAC | N,D 515 | XP_016873735.1 | |
XM_017018247.1 | 1959 | UTR 3 | XP_016873736.1 | |||
XM_017018248.1 | 1959 | Missense Mutation | AAC,GAC | N,D 541 | XP_016873737.1 | |
XM_017018249.1 | 1959 | UTR 3 | XP_016873738.1 | |||
XM_017018250.1 | 1959 | UTR 3 | XP_016873739.1 | |||
XM_017018251.1 | 1959 | UTR 3 | XP_016873740.1 |