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TGGGGAAACCTACCTAGCTGCCCCC[A/G]AAGGCCTTTGACTTCTTCCTCCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611947 MIM: 607146 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC153 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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CCDC153 - coiled-coil domain containing 153 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145018.1 | 642 | Missense Mutation | CGG,TGG | R,W 113 | NP_001138490.1 | |
XM_006718818.3 | 642 | Missense Mutation | CGG,TGG | R,W 85 | XP_006718881.1 | |
XM_011542763.2 | 642 | Missense Mutation | CGG,TGG | R,W 273 | XP_011541065.1 | |
XM_011542764.2 | 642 | Missense Mutation | CGG,TGG | R,W 273 | XP_011541066.1 | |
XM_011542770.2 | 642 | Missense Mutation | CGG,TGG | R,W 113 | XP_011541072.1 | |
XM_011542771.2 | 642 | Missense Mutation | CGG,TGG | R,W 105 | XP_011541073.1 | |
XM_011542772.2 | 642 | Missense Mutation | CGG,TGG | R,W 105 | XP_011541074.1 | |
XM_011542774.2 | 642 | Missense Mutation | CGG,TGG | R,W 175 | XP_011541076.1 | |
XM_017017577.1 | 642 | Missense Mutation | CGG,TGG | R,W 201 | XP_016873066.1 | |
XM_017017578.1 | 642 | Missense Mutation | CGG,TGG | R,W 148 | XP_016873067.1 | |
XM_017017579.1 | 642 | Missense Mutation | CGG,TGG | R,W 42 | XP_016873068.1 | |
XM_017017580.1 | 642 | Missense Mutation | CGG,TGG | R,W 113 | XP_016873069.1 |
NLRX1 - NLR family member X1 | ||||||
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There are no transcripts associated with this gene. |
PDZD3 - PDZ domain containing 3 | ||||||
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There are no transcripts associated with this gene. |