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GTCCTCGGGGCCCGGCAGGGGCTGT[C/T]GAGGGACGGTGGGCCGGCCATGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605516 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C10orf105 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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C10orf105 - chromosome 10 open reading frame 105 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164375.2 | 535 | Missense Mutation | CAA,CGA | Q,R 112 | NP_001157847.1 | |
NM_001168390.1 | 535 | Missense Mutation | CAA,CGA | Q,R 112 | NP_001161862.1 | |
XM_011539808.2 | 535 | Missense Mutation | CAA,CGA | Q,R 112 | XP_011538110.1 | |
XM_011539809.2 | 535 | Missense Mutation | CAA,CGA | Q,R 112 | XP_011538111.1 |