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CTTATTCAAGCACGTAAATGTGAAT[C/T]GGTAAAGTACCCTGAAACTTTACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601181 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC138 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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CCDC138 - coiled-coil domain containing 138 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303105.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | NP_001290034.1 | |
NM_001303106.1 | 232 | UTR 5 | NP_001290035.1 | |||
NM_144978.2 | 232 | Missense Mutation | CGC,TGC | R,C 89 | NP_659415.1 | |
XM_006712344.2 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_006712407.1 | |
XM_006712345.3 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_006712408.1 | |
XM_011510757.2 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_011509059.1 | |
XM_011510758.2 | 232 | Missense Mutation | CGC,TGC | R,C 84 | XP_011509060.1 | |
XM_011510760.2 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_011509062.1 | |
XM_011510761.2 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_011509063.1 | |
XM_011510762.2 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_011509064.1 | |
XM_017003492.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | XP_016858981.1 | |
XM_017003493.1 | 232 | Missense Mutation | CGC,TGC | R,C 84 | XP_016858982.1 | |
XM_017003494.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | XP_016858983.1 | |
XM_017003495.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | XP_016858984.1 | |
XM_017003496.1 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_016858985.1 | |
XM_017003497.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | XP_016858986.1 | |
XM_017003498.1 | 232 | Missense Mutation | CGC,TGC | R,C 95 | XP_016858987.1 | |
XM_017003499.1 | 232 | Missense Mutation | CGC,TGC | R,C 89 | XP_016858988.1 | |
XM_017003500.1 | 232 | Missense Mutation | CGC,TGC | R,C 84 | XP_016858989.1 | |
XM_017003501.1 | 232 | UTR 5 | XP_016858990.1 | |||
XM_017003502.1 | 232 | UTR 5 | XP_016858991.1 | |||
XM_017003503.1 | 232 | UTR 5 | XP_016858992.1 | |||
XM_017003504.1 | 232 | UTR 5 | XP_016858993.1 |
RANBP2 - RAN binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006267.4 | 232 | Intron | NP_006258.3 | |||
XM_005264002.2 | 232 | Intron | XP_005264059.1 | |||
XM_005264003.2 | 232 | Intron | XP_005264060.1 | |||
XM_005264004.2 | 232 | Intron | XP_005264061.1 | |||
XM_005264005.4 | 232 | Intron | XP_005264062.1 | |||
XM_005264007.2 | 232 | Intron | XP_005264064.1 | |||
XM_011511575.2 | 232 | Intron | XP_011509877.1 | |||
XM_011511576.2 | 232 | Intron | XP_011509878.1 | |||
XM_011511578.2 | 232 | Intron | XP_011509880.1 | |||
XM_017004623.1 | 232 | Intron | XP_016860112.1 | |||
XM_017004624.1 | 232 | Intron | XP_016860113.1 | |||
XM_017004625.1 | 232 | Intron | XP_016860114.1 |