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TAGAGCTTGAAGTGGCGGAAGTAAG[C/T]GTTGACCACGTAGTCTTCCAAGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 172471 MIM: 607700 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC189 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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CCDC189 - coiled-coil domain containing 189 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014979.2 | 1271 | Missense Mutation | ACT,GCT | T,A 204 | NP_001014979.2 | |
NM_001195620.1 | 1271 | Intron | NP_001182549.1 | |||
XM_011545976.1 | 1271 | Missense Mutation | ACT,GCT | T,A 204 | XP_011544278.1 | |
XM_011545978.1 | 1271 | Silent Mutation | ACA,ACG | T,T 175 | XP_011544280.1 | |
XM_017023852.1 | 1271 | Missense Mutation | ACT,GCT | T,A 269 | XP_016879341.1 | |
XM_017023853.1 | 1271 | Missense Mutation | ACT,GCT | T,A 248 | XP_016879342.1 | |
XM_017023854.1 | 1271 | Missense Mutation | ACT,GCT | T,A 269 | XP_016879343.1 | |
XM_017023855.1 | 1271 | Missense Mutation | ACT,GCT | T,A 237 | XP_016879344.1 | |
XM_017023856.1 | 1271 | Missense Mutation | ACT,GCT | T,A 232 | XP_016879345.1 | |
XM_017023857.1 | 1271 | Missense Mutation | ACT,GCT | T,A 200 | XP_016879346.1 | |
XM_017023858.1 | 1271 | Missense Mutation | ACT,GCT | T,A 269 | XP_016879347.1 | |
XM_017023859.1 | 1271 | Silent Mutation | ACA,ACG | T,T 227 | XP_016879348.1 | |
XM_017023860.1 | 1271 | Missense Mutation | ACT,GCT | T,A 130 | XP_016879349.1 | |
XM_017023861.1 | 1271 | Silent Mutation | ACA,ACG | T,T 227 | XP_016879350.1 | |
XM_017023862.1 | 1271 | Missense Mutation | ACT,GCT | T,A 98 | XP_016879351.1 |
PHKG2 - phosphorylase kinase catalytic subunit gamma 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000294.2 | 1271 | UTR 3 | NP_000285.1 | |||
NM_001172432.1 | 1271 | Intron | NP_001165903.1 |
RNF40 - ring finger protein 40 | ||||||
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There are no transcripts associated with this gene. |