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ACAGTAAGCTGTACCCCACCCACAG[C/T]TGGCTCATCCCGATGGGACACGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300663 MIM: 303631 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATG4A 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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ATG4A - autophagy related 4A cysteine peptidase | ||||||
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There are no transcripts associated with this gene. |
COL4A6 - collagen type IV alpha 6 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287758.1 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1504 | NP_001274687.1 | |
NM_001287759.1 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1463 | NP_001274688.1 | |
NM_001287760.1 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1430 | NP_001274689.1 | |
NM_001847.3 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1488 | NP_001838.2 | |
NM_033641.3 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1487 | NP_378667.1 | |
XM_006724617.3 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1505 | XP_006724680.1 | |
XM_011530852.2 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1481 | XP_011529154.1 | |
XM_011530853.2 | 4524 | Silent Mutation | CAA,CAG | Q,Q 1477 | XP_011529155.1 | |
XM_011530854.2 | 4524 | Intron | XP_011529156.1 |