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CATCCGGGGACTGGGGCTGGACGAT[A/G]CCTTGGAGCCTCGGCAGGTAGAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138570 MIM: 604788 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GYS1 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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GYS1 - glycogen synthase 1 | ||||||
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There are no transcripts associated with this gene. |
MIR6798 - microRNA 6798 | ||||||
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There are no transcripts associated with this gene. |
RUVBL2 - RuvB like AAA ATPase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321190.1 | 570 | UTR 5 | NP_001308119.1 | |||
NM_001321191.1 | 570 | UTR 5 | NP_001308120.1 | |||
NM_006666.2 | 570 | Missense Mutation | ACC,GCC | T,A 36 | NP_006657.1 | |
XM_011526330.1 | 570 | UTR 5 | XP_011524632.1 |