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TTGGTTTCAACAGCTACTCTGACCT[A/G]CGACACTCTCCGGTTTGCTGAGTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611338 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATG4B 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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ATG4B - autophagy related 4B cysteine peptidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013325.4 | 225 | Missense Mutation | TAC,TGC | Y,C 8 | NP_037457.3 | |
NM_178326.2 | 225 | Missense Mutation | TAC,TGC | Y,C 8 | NP_847896.1 | |
XM_005246992.3 | 225 | Missense Mutation | TAC,TGC | Y,C 8 | XP_005247049.2 | |
XM_005246993.2 | 225 | Missense Mutation | TAC,TGC | Y,C 8 | XP_005247050.2 | |
XM_005246995.3 | 225 | UTR 5 | XP_005247052.1 | |||
XM_005246996.2 | 225 | UTR 5 | XP_005247053.1 | |||
XM_017003637.1 | 225 | Missense Mutation | TAC,TGC | Y,C 72 | XP_016859126.1 | |
XM_017003638.1 | 225 | Missense Mutation | TAC,TGC | Y,C 72 | XP_016859127.1 | |
XM_017003639.1 | 225 | UTR 5 | XP_016859128.1 | |||
XM_017003640.1 | 225 | UTR 5 | XP_016859129.1 |