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ATCTTTCCCCGTGCCCAGGGAGGCC[A/G]GGCGGGGCCGAGAATTACGTAAGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
26 submissions
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Phenotype: |
MIM: 611680 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf116 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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C1orf116 - chromosome 1 open reading frame 116 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083924.1 | 1518 | Missense Mutation | CCG,CTG | P,L 284 | NP_001077393.1 | |
NM_023938.5 | 1518 | Missense Mutation | CCG,CTG | P,L 530 | NP_076427.2 | |
XM_005273259.1 | 1518 | Missense Mutation | CCG,CTG | P,L 284 | XP_005273316.1 | |
XM_006711530.1 | 1518 | Missense Mutation | CCG,CTG | P,L 530 | XP_006711593.1 | |
XM_011509973.2 | 1518 | Missense Mutation | CCG,CTG | P,L 284 | XP_011508275.1 |