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AAAGTCAGGCACGGAGAAGGGCACG[C/T]GGGACCACTTTTTGGCCTGGATCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608588 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DHX58 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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DHX58 - DEXH-box helicase 58 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024119.2 | 2180 | Missense Mutation | CAC,CGC | H,R 654 | NP_077024.2 | |
XM_017025059.1 | 2180 | Missense Mutation | CAC,CGC | H,R 654 | XP_016880548.1 | |
XM_017025060.1 | 2180 | Missense Mutation | CAC,CGC | H,R 654 | XP_016880549.1 |