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TTCCACCTCCACCAGTTGATTTCTC[C/T]GTGTTCTTAGATGCTTGTCGCATAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605502 MIM: 603131 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAJC2 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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DNAJC2 - DnaJ heat shock protein family (Hsp40) member C2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001129887.1 | 1432 | Silent Mutation | ACA,ACG | T,T 387 | NP_001123359.1 | |
NM_014377.1 | 1432 | Silent Mutation | ACA,ACG | T,T 440 | NP_055192.1 | |
XM_005250269.2 | 1432 | Silent Mutation | ACA,ACG | T,T 294 | XP_005250326.1 | |
XM_011516028.2 | 1432 | Silent Mutation | ACA,ACG | T,T 366 | XP_011514330.1 | |
XM_011516029.2 | 1432 | Silent Mutation | ACA,ACG | T,T 294 | XP_011514331.1 | |
XM_011516030.2 | 1432 | Silent Mutation | ACA,ACG | T,T 237 | XP_011514332.1 | |
XM_017011968.1 | 1432 | Silent Mutation | ACA,ACG | T,T 237 | XP_016867457.1 |
PMPCB - peptidase, mitochondrial processing beta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004279.2 | 1432 | Intron | NP_004270.2 | |||
XM_005250717.3 | 1432 | Intron | XP_005250774.1 | |||
XM_006716181.3 | 1432 | Intron | XP_006716244.1 |