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TCACTCTCTGGCCACAGTTTGGGTG[A/G]CTGTAGCCCCATGTAAGTCAAAGAC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1358 | Missense Mutation | CCA,TCA | P,S 233 | NP_001014979.2 | |
NM_001195620.1 | 1358 | Intron | NP_001182549.1 | |||
XM_011545976.1 | 1358 | Missense Mutation | CCA,TCA | P,S 233 | XP_011544278.1 | |
XM_011545978.1 | 1358 | Intron | XP_011544280.1 | |||
XM_017023852.1 | 1358 | Missense Mutation | CCA,TCA | P,S 298 | XP_016879341.1 | |
XM_017023853.1 | 1358 | Missense Mutation | CCA,TCA | P,S 277 | XP_016879342.1 | |
XM_017023854.1 | 1358 | Missense Mutation | CCA,TCA | P,S 298 | XP_016879343.1 | |
XM_017023855.1 | 1358 | Missense Mutation | CCA,TCA | P,S 266 | XP_016879344.1 | |
XM_017023856.1 | 1358 | Missense Mutation | CCA,TCA | P,S 261 | XP_016879345.1 | |
XM_017023857.1 | 1358 | Missense Mutation | CCA,TCA | P,S 229 | XP_016879346.1 | |
XM_017023858.1 | 1358 | Intron | XP_016879347.1 | |||
XM_017023859.1 | 1358 | Intron | XP_016879348.1 | |||
XM_017023860.1 | 1358 | Missense Mutation | CCA,TCA | P,S 159 | XP_016879349.1 | |
XM_017023861.1 | 1358 | UTR 3 | XP_016879350.1 | |||
XM_017023862.1 | 1358 | Missense Mutation | CCA,TCA | P,S 127 | 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 | 1358 | UTR 3 | NP_000285.1 | |||
NM_001172432.1 | 1358 | Intron | NP_001165903.1 |
RNF40 - ring finger protein 40 | ||||||
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There are no transcripts associated with this gene. |