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TGGATCAGTTTACACTTGAGGTCAA[C/T]AATATATGCAACGTATGCGATGAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611342 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C9orf64 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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C9orf64 - chromosome 9 open reading frame 64 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317997.1 | 1264 | Missense Mutation | TAT,TGT | Y,C 200 | NP_001304926.1 | |
NM_032307.4 | 1264 | Missense Mutation | TAT,TGT | Y,C 341 | NP_115683.3 | |
XM_005252271.4 | 1264 | Intron | XP_005252328.1 |