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TGGTGGATCCGATGTGCCACCCCGA[C/T]GTGGGCCTTGTGCGGCTTTTCGCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605884 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC92 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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CCDC92 - coiled-coil domain containing 92 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304957.1 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | NP_001291886.1 | |
NM_001304958.1 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | NP_001291887.1 | |
NM_001304959.1 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | NP_001291888.1 | |
NM_001304960.1 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | NP_001291889.1 | |
NM_001304961.1 | 1289 | Missense Mutation | ATC,GTC | I,V 272 | NP_001291890.1 | |
NM_025140.2 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | NP_079416.1 | |
XM_005253624.2 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | XP_005253681.1 | |
XM_017019984.1 | 1289 | Missense Mutation | ATC,GTC | I,V 289 | XP_016875473.1 |
DNAH10 - dynein axonemal heavy chain 10 | ||||||
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There are no transcripts associated with this gene. |