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TGGAGCAGTATGGCCAGTGTGTGGC[A/G]GCCAAGCCGGAATCCTGGCAGCGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616978 MIM: 602000 | ||||||||||||||||||||
Literature Links: |
CHCHD5 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 |
CHCHD5 - coiled-coil-helix-coiled-coil-helix domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304353.1 | 1114 | UTR 5 | NP_001291282.1 | |||
NM_001304354.1 | 1114 | UTR 5 | NP_001291283.1 | |||
NM_032309.3 | 1114 | Silent Mutation | GCA,GCG | A,A 24 | NP_115685.1 | |
XM_005263824.3 | 1114 | Silent Mutation | GCA,GCG | A,A 24 | XP_005263881.1 |
POLR1B - RNA polymerase I subunit B | ||||||
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There are no transcripts associated with this gene. |