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ATGAAGGTGATCTCGCAGCTGGGCG[C/T]CAGCCTGCGCACGCTGGCATGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138079 MIM: 613993 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GCK 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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GCK - glucokinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000162.3 | 1761 | Missense Mutation | ACG,GCG | T,A 431 | NP_000153.1 | |
NM_033507.1 | 1761 | Missense Mutation | ACG,GCG | T,A 432 | NP_277042.1 | |
NM_033508.1 | 1761 | Missense Mutation | ACG,GCG | T,A 430 | NP_277043.1 | |
XM_017011966.1 | 1761 | Missense Mutation | ACG,GCG | T,A 431 | XP_016867455.1 |
MYL7 - myosin light chain 7 | ||||||
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There are no transcripts associated with this gene. |