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AGAGGGGCAGGCTCTGTCACATGCT[C/T]CTCTTGCTTGCGCAGACTCTCCAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601273 MIM: 190315 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLTCL1 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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CLTCL1 - clathrin heavy chain like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001835.3 | 3179 | Missense Mutation | AAG,GAG | K,E 1567 | NP_001826.3 | |
NM_007098.3 | 3179 | Missense Mutation | AAG,GAG | K,E 1624 | NP_009029.3 | |
XM_011530401.2 | 3179 | Missense Mutation | AAG,GAG | K,E 1021 | XP_011528703.1 | |
XM_017028953.1 | 3179 | Missense Mutation | AAG,GAG | K,E 1616 | XP_016884442.1 | |
XM_017028954.1 | 3179 | Missense Mutation | AAG,GAG | K,E 1586 | XP_016884443.1 | |
XM_017028955.1 | 3179 | Missense Mutation | AAG,GAG | K,E 1552 | XP_016884444.1 | |
XM_017028956.1 | 3179 | Missense Mutation | AAG,GAG | K,E 1530 | XP_016884445.1 | |
XM_017028957.1 | 3179 | Intron | XP_016884446.1 |
LINC01311 - long intergenic non-protein coding RNA 1311 | ||||||
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There are no transcripts associated with this gene. |
SLC25A1 - solute carrier family 25 member 1 | ||||||
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There are no transcripts associated with this gene. |