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CAGACCCCTTGCTGATGCAGCTGCG[A/G]CCCCCTCTCAGTGAGCCGGCCTTGG
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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There are no transcripts associated with this gene. |
PHKG2 - phosphorylase kinase catalytic subunit gamma 2 | ||||||
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There are no transcripts associated with this gene. |
RNF40 - ring finger protein 40 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001207033.1 | 626 | Silent Mutation | CGA,CGG | R,R 155 | NP_001193962.1 | |
NM_001207034.1 | 626 | Silent Mutation | CGA,CGG | R,R 155 | NP_001193963.1 | |
NM_001286572.2 | 626 | Silent Mutation | CGA,CGG | R,R 155 | NP_001273501.1 | |
NM_014771.3 | 626 | Silent Mutation | CGA,CGG | R,R 155 | NP_055586.1 | |
XM_011545997.1 | 626 | Silent Mutation | CGA,CGG | R,R 155 | XP_011544299.1 |