Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118955 MIM: 608625 MIM: 611753 | ||||||||||||||||||||
Literature Links: |
CLTC 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 |
CLTC - clathrin heavy chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288653.1 | 449 | Intron | NP_001275582.1 | |||
NM_004859.3 | 449 | Intron | NP_004850.1 | |||
XM_005257012.3 | 449 | Intron | XP_005257069.1 |
PTRH2 - peptidyl-tRNA hydrolase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001015509.2 | 449 | Nonsense Mutation | GAA,TAA | E,* 124 | NP_001015509.1 | |
NM_016077.4 | 449 | Nonsense Mutation | GAA,TAA | E,* 123 | NP_057161.1 | |
XM_011524887.1 | 449 | Nonsense Mutation | GAA,TAA | E,* 123 | XP_011523189.1 |
VMP1 - vacuole membrane protein 1 | ||||||
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There are no transcripts associated with this gene. |