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CAGCAGGTTGAAGTCCCCTTTGTGC[C/T]GTTCCAGCCACTGGTCCAGCGTCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608382 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAJA3 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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DNAJA3 - DnaJ heat shock protein family (Hsp40) member A3 | ||||||
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There are no transcripts associated with this gene. |
NMRAL1 - NmrA-like family domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001305141.1 | 1185 | Missense Mutation | CAG,CGG | Q,R 291 | NP_001292070.1 | |
NM_001305142.1 | 1185 | Missense Mutation | CAG,CGG | Q,R 291 | NP_001292071.1 | |
NM_020677.4 | 1185 | Missense Mutation | CAG,CGG | Q,R 291 | NP_065728.1 | |
XM_006720905.3 | 1185 | Missense Mutation | CAG,CGG | Q,R 228 | XP_006720968.1 | |
XM_006720906.2 | 1185 | Missense Mutation | CAG,CGG | Q,R 227 | XP_006720969.1 | |
XM_011522567.2 | 1185 | Intron | XP_011520869.1 | |||
XM_017023485.1 | 1185 | Missense Mutation | CAG,CGG | Q,R 327 | XP_016878974.1 | |
XM_017023486.1 | 1185 | Intron | XP_016878975.1 | |||
XM_017023487.1 | 1185 | Intron | XP_016878976.1 | |||
XM_017023488.1 | 1185 | Intron | XP_016878977.1 | |||
XM_017023489.1 | 1185 | Missense Mutation | CAG,CGG | Q,R 227 | XP_016878978.1 | |
XM_017023490.1 | 1185 | Missense Mutation | CAG,CGG | Q,R 228 | XP_016878979.1 | |
XM_017023491.1 | 1185 | UTR 3 | XP_016878980.1 | |||
XM_017023492.1 | 1185 | UTR 3 | XP_016878981.1 |