Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGGGCCTTCGCATTGCCAAGTTTC[A/G]CAGCTTGGATGAGATGGAGCGCACC
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 - 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 |
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 | 1958 | Missense Mutation | GCG,GTG | A,V 662 | NP_001121699.1 | |
NM_001190383.1 | 1958 | Missense Mutation | GCG,GTG | A,V 557 | NP_001177312.1 | |
NM_001190384.1 | 1958 | Missense Mutation | GCG,GTG | A,V 521 | NP_001177313.1 | |
NM_001190388.1 | 1958 | Missense Mutation | GCG,GTG | A,V 626 | NP_001177317.1 | |
NM_005476.5 | 1958 | Missense Mutation | GCG,GTG | A,V 631 | NP_005467.1 | |
XM_005251334.4 | 1958 | Missense Mutation | GCG,GTG | A,V 611 | XP_005251391.1 | |
XM_017014167.1 | 1958 | Missense Mutation | GCG,GTG | A,V 631 | XP_016869656.1 | |
XM_017014168.1 | 1958 | Missense Mutation | GCG,GTG | A,V 580 | XP_016869657.1 |