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GGTAATATCTCTTTAGCATAAAGTG[G/T]TCTATGAAGTCCAGCTTCTCGAAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC148 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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CCDC148 - coiled-coil domain containing 148 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301684.1 | 1939 | Missense Mutation | ACA,CCA | T,P 418 | NP_001288613.1 | |
NM_001301685.1 | 1939 | Intron | NP_001288614.1 | |||
NM_138803.3 | 1939 | Missense Mutation | ACA,CCA | T,P 564 | NP_620158.3 | |
XM_005246319.3 | 1939 | Missense Mutation | ACA,CCA | T,P 585 | XP_005246376.1 | |
XM_011510638.2 | 1939 | Missense Mutation | ACA,CCA | T,P 598 | XP_011508940.1 | |
XM_017003392.1 | 1939 | Missense Mutation | ACA,CCA | T,P 577 | XP_016858881.1 | |
XM_017003393.1 | 1939 | Missense Mutation | ACA,CCA | T,P 563 | XP_016858882.1 | |
XM_017003394.1 | 1939 | Missense Mutation | ACA,CCA | T,P 524 | XP_016858883.1 | |
XM_017003395.1 | 1939 | Missense Mutation | ACA,CCA | T,P 491 | XP_016858884.1 | |
XM_017003396.1 | 1939 | Missense Mutation | ACA,CCA | T,P 478 | XP_016858885.1 | |
XM_017003397.1 | 1939 | Missense Mutation | ACA,CCA | T,P 418 | XP_016858886.1 | |
XM_017003398.1 | 1939 | Missense Mutation | ACA,CCA | T,P 351 | XP_016858887.1 |
CCDC148-AS1 - CCDC148 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |