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CCCGATGAGGACAAGGTCTGGAGGC[C/G]GGCCTGGGAACAGGGGCCGAAGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601965 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C9orf47 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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C9orf47 - chromosome 9 open reading frame 47 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001938.3 | 333 | Missense Mutation | CCG,CGG | P,R 67 | NP_001001938.1 | |
NM_001142413.1 | 333 | Intron | NP_001135885.1 |
S1PR3 - sphingosine-1-phosphate receptor 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005226.3 | 333 | Intron | NP_005217.2 |