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TCTGGATTTTATTTTGACAGAAAAG[C/T]TTTAGAGACAGTCTTTGATGAAGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603942 | ||||||||||||||||||||
Literature Links: |
GYG1 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 |
GYG1 - glycogenin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184720.1 | 382 | Missense Mutation | GCT,GTT | A,V 50 | NP_001171649.1 | |
NM_001184721.1 | 382 | Missense Mutation | GCT,GTT | A,V 50 | NP_001171650.1 | |
NM_004130.3 | 382 | Missense Mutation | GCT,GTT | A,V 50 | NP_004121.2 | |
XM_017006275.1 | 382 | Intron | XP_016861764.1 | |||
XM_017006276.1 | 382 | Intron | XP_016861765.1 |