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GGCAGCACAGTGTAGTTCAGGGAAG[G/T]GCTGACTACTAATGCCACGGAAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604452 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PSMD5 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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PSMD5 - proteasome 26S subunit, non-ATPase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270427.1 | 1239 | Missense Mutation | CAC,CCC | H,P 363 | NP_001257356.1 | |
NM_005047.3 | 1239 | Missense Mutation | CAC,CCC | H,P 406 | NP_005038.1 | |
XM_011518866.2 | 1239 | Missense Mutation | CAC,CCC | H,P 406 | XP_011517168.1 | |
XM_017014927.1 | 1239 | Missense Mutation | CAC,CCC | H,P 406 | XP_016870416.1 | |
XM_017014928.1 | 1239 | Missense Mutation | CAC,CCC | H,P 192 | XP_016870417.1 |