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CAGGAAGGAGGAGAAAGACCCTGGA[C/G]AGCCCAAGCACAGCATCCCAGCGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615475 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DHX34 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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DHX34 - DEAH-box helicase 34 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014681.5 | 551 | Missense Mutation | CAG,GAG | Q,E 85 | NP_055496.2 | |
XM_005259443.3 | 551 | Missense Mutation | CAG,GAG | Q,E 85 | XP_005259500.1 | |
XM_011527550.2 | 551 | Missense Mutation | CAG,GAG | Q,E 85 | XP_011525852.1 | |
XM_011527551.2 | 551 | Missense Mutation | CAG,GAG | Q,E 85 | XP_011525853.1 | |
XM_017027524.1 | 551 | UTR 5 | XP_016883013.1 |