Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCAAAGGCTCCTGCTGCAAGTTCT[C/G]TCTTTTTGTTTTGTATTTTCAGCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603942 MIM: 603257 | ||||||||||||||||||||
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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There are no transcripts associated with this gene. |
HLTF - helicase like transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318934.1 | 3148 | Missense Mutation | ACA,AGA | T,R 977 | NP_001305863.1 | |
NM_001318935.1 | 3148 | Missense Mutation | ACA,AGA | T,R 978 | NP_001305864.1 | |
NM_003071.3 | 3148 | Missense Mutation | ACA,AGA | T,R 978 | NP_003062.2 | |
NM_139048.2 | 3148 | Missense Mutation | ACA,AGA | T,R 978 | NP_620636.1 | |
XM_011513091.1 | 3148 | Missense Mutation | ACA,AGA | T,R 982 | XP_011511393.1 | |
XM_011513092.1 | 3148 | Missense Mutation | ACA,AGA | T,R 982 | XP_011511394.1 | |
XM_011513093.1 | 3148 | Missense Mutation | ACA,AGA | T,R 981 | XP_011511395.1 | |
XM_017007078.1 | 3148 | Missense Mutation | ACA,AGA | T,R 981 | XP_016862567.1 | |
XM_017007079.1 | 3148 | Missense Mutation | ACA,AGA | T,R 977 | XP_016862568.1 |