Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGGTCATCCTCTCGAAGGTGTTC[A/G]ATGAAGTCATTGAAGTGAATCTAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300198 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GYG2 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
|
GYG2 - glycogenin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079855.1 | 547 | Missense Mutation | AAT,GAT | N,D 58 | NP_001073324.1 | |
NM_001184702.1 | 547 | Missense Mutation | AAT,GAT | N,D 58 | NP_001171631.1 | |
NM_001184703.1 | 547 | Missense Mutation | AAT,GAT | N,D 89 | NP_001171632.1 | |
NM_001184704.1 | 547 | UTR 5 | NP_001171633.1 | |||
NM_003918.2 | 547 | Missense Mutation | AAT,GAT | N,D 89 | NP_003909.2 | |
XM_011545600.2 | 547 | Missense Mutation | AAT,GAT | N,D 58 | XP_011543902.1 | |
XM_017029927.1 | 547 | Missense Mutation | AAT,GAT | N,D 89 | XP_016885416.1 | |
XM_017029928.1 | 547 | Missense Mutation | AAT,GAT | N,D 89 | XP_016885417.1 | |
XM_017029929.1 | 547 | Missense Mutation | AAT,GAT | N,D 89 | XP_016885418.1 | |
XM_017029930.1 | 547 | Missense Mutation | AAT,GAT | N,D 58 | XP_016885419.1 | |
XM_017029931.1 | 547 | Missense Mutation | AAT,GAT | N,D 58 | XP_016885420.1 |