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AAGTTCCATCAGTCGTTTTCCTTGG[A/C]CAATTAACAAGTTAGGCTTCCACAG
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 |
---|---|---|
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 |
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 | 735 | Missense Mutation | GAC,GCC | D,A 201 | NP_001001938.1 | |
NM_001142413.1 | 735 | Missense Mutation | GAC,GCC | D,A 182 | 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 | 735 | Intron | NP_005217.2 |