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TTTCGTTGTGCTTGATAGAGACGCC[A/G]GAGCAGTGGAAGTGCAGGTGGTTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616114 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHD6 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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CHD6 - chromodomain helicase DNA binding protein 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032221.4 | 7285 | Missense Mutation | CCG,CTG | P,L 2551 | NP_115597.3 | |
XM_005260573.2 | 7285 | Missense Mutation | CCG,CTG | P,L 2529 | XP_005260630.1 | |
XM_005260576.4 | 7285 | Missense Mutation | CCG,CTG | P,L 1200 | XP_005260633.1 | |
XM_011529080.2 | 7285 | Missense Mutation | CCG,CTG | P,L 2549 | XP_011527382.1 | |
XM_011529082.2 | 7285 | Missense Mutation | CCG,CTG | P,L 1874 | XP_011527384.1 | |
XM_017028099.1 | 7285 | Missense Mutation | CCG,CTG | P,L 2552 | XP_016883588.1 | |
XM_017028100.1 | 7285 | Missense Mutation | CCG,CTG | P,L 2529 | XP_016883589.1 | |
XM_017028101.1 | 7285 | Missense Mutation | CCG,CTG | P,L 2504 | XP_016883590.1 | |
XM_017028102.1 | 7285 | Intron | XP_016883591.1 | |||
XM_017028103.1 | 7285 | Missense Mutation | CCG,CTG | P,L 2217 | XP_016883592.1 | |
XM_017028104.1 | 7285 | Intron | XP_016883593.1 |