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TGTGGGCTTTCTCTTGCCCCTCCAC[A/G]AACAGTAAGCTGTACCCCACCCACA
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 |
---|---|---|
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 |
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 | 4551 | Silent Mutation | TTC,TTT | F,F 1513 | NP_001274687.1 | |
NM_001287759.1 | 4551 | Silent Mutation | TTC,TTT | F,F 1472 | NP_001274688.1 | |
NM_001287760.1 | 4551 | Silent Mutation | TTC,TTT | F,F 1439 | NP_001274689.1 | |
NM_001847.3 | 4551 | Silent Mutation | TTC,TTT | F,F 1497 | NP_001838.2 | |
NM_033641.3 | 4551 | Silent Mutation | TTC,TTT | F,F 1496 | NP_378667.1 | |
XM_006724617.3 | 4551 | Silent Mutation | TTC,TTT | F,F 1514 | XP_006724680.1 | |
XM_011530852.2 | 4551 | Silent Mutation | TTC,TTT | F,F 1490 | XP_011529154.1 | |
XM_011530853.2 | 4551 | Silent Mutation | TTC,TTT | F,F 1486 | XP_011529155.1 | |
XM_011530854.2 | 4551 | Intron | XP_011529156.1 |