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GGATATAGTGACTGGCCAGGACTCC[A/G]GAGAGGATCACAAGGGAGGGATTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118960 MIM: 603824 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLTA 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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CLTA - clathrin light chain A | ||||||
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There are no transcripts associated with this gene. |
GNE - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128227.2 | 2070 | Silent Mutation | TCC,TCT | S,S 699 | NP_001121699.1 | |
NM_001190383.1 | 2070 | Silent Mutation | TCC,TCT | S,S 594 | NP_001177312.1 | |
NM_001190384.1 | 2070 | Silent Mutation | TCC,TCT | S,S 558 | NP_001177313.1 | |
NM_001190388.1 | 2070 | Silent Mutation | TCC,TCT | S,S 663 | NP_001177317.1 | |
NM_005476.5 | 2070 | Silent Mutation | TCC,TCT | S,S 668 | NP_005467.1 | |
XM_005251334.4 | 2070 | Silent Mutation | TCC,TCT | S,S 648 | XP_005251391.1 | |
XM_017014167.1 | 2070 | Silent Mutation | TCC,TCT | S,S 668 | XP_016869656.1 | |
XM_017014168.1 | 2070 | Silent Mutation | TCC,TCT | S,S 617 | XP_016869657.1 |