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ATACATTGGTTGTTTGCTTAACCAT[C/T]GTTTTCGCATGTGCCATCTGTCAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC178 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
|
CCDC178 - coiled-coil domain containing 178 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105528.1 | 2810 | Missense Mutation | AAT,GAT | N,D 866 | NP_001098998.1 | |
NM_001308126.1 | 2810 | Missense Mutation | AAT,GAT | N,D 890 | NP_001295055.1 | |
NM_198995.2 | 2810 | Missense Mutation | AAT,GAT | N,D 828 | NP_945346.2 | |
XM_011525948.1 | 2810 | Missense Mutation | AAT,GAT | N,D 866 | XP_011524250.1 | |
XM_011525951.1 | 2810 | Missense Mutation | AAT,GAT | N,D 816 | XP_011524253.1 | |
XM_011525954.2 | 2810 | Intron | XP_011524256.1 | |||
XM_011525955.1 | 2810 | Intron | XP_011524257.1 | |||
XM_017025721.1 | 2810 | Missense Mutation | AAT,GAT | N,D 890 | XP_016881210.1 | |
XM_017025722.1 | 2810 | Missense Mutation | AAT,GAT | N,D 890 | XP_016881211.1 | |
XM_017025723.1 | 2810 | Missense Mutation | AAT,GAT | N,D 890 | XP_016881212.1 | |
XM_017025724.1 | 2810 | Missense Mutation | AAT,GAT | N,D 728 | XP_016881213.1 | |
XM_017025725.1 | 2810 | Missense Mutation | AAT,GAT | N,D 728 | XP_016881214.1 |