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CCGGGCAATGCCATGGTGGCCTGGG[C/T]GGCTGGGAAGGTGGCCCGCCGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609949 MIM: 615475 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C5AR2 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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C5AR2 - complement component 5a receptor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271749.1 | 317 | Missense Mutation | GCG,GTG | A,V 59 | NP_001258678.1 | |
NM_001271750.1 | 317 | Missense Mutation | GCG,GTG | A,V 59 | NP_001258679.1 | |
NM_018485.2 | 317 | Missense Mutation | GCG,GTG | A,V 59 | NP_060955.1 | |
XM_011526736.2 | 317 | Missense Mutation | GCG,GTG | A,V 59 | XP_011525038.1 |
DHX34 - DEAH-box helicase 34 | ||||||
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There are no transcripts associated with this gene. |