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GAGAGGAAGAAGGGCCAACGCTGGG[G/T]GTCCCTGGAACGACGGGGGATGCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611902 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC136 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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CCDC136 - coiled-coil domain containing 136 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201372.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | NP_001188301.1 | |
NM_022742.4 | 181 | UTR 5 | NP_073579.4 | |||
XM_005250534.3 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_005250591.1 | |
XM_005250538.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_005250595.1 | |
XM_011516483.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514785.1 | |
XM_011516484.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514786.1 | |
XM_011516485.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514787.1 | |
XM_011516486.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514788.1 | |
XM_011516487.2 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514789.1 | |
XM_011516488.2 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514790.1 | |
XM_011516489.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514791.1 | |
XM_011516490.2 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_011514792.1 | |
XM_017012532.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_016868021.1 | |
XM_017012533.1 | 181 | UTR 5 | XP_016868022.1 | |||
XM_017012534.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_016868023.1 | |
XM_017012535.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_016868024.1 | |
XM_017012536.1 | 181 | Missense Mutation | GGG,GTG | G,V 44 | XP_016868025.1 |