Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614666 MIM: 610998 MIM: 611118 | ||||||||||||||||||||
Literature Links: |
CCDC78 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CCDC78 - coiled-coil domain containing 78 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031737.2 | 1224 | Missense Mutation | CAC,CGC | H,R 308 | NP_001026907.2 | |
XM_006720838.1 | 1224 | Missense Mutation | CAC,CGC | H,R 382 | XP_006720901.1 | |
XM_006720843.3 | 1224 | Missense Mutation | CAC,CGC | H,R 308 | XP_006720906.1 | |
XM_011522356.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520658.1 | |
XM_011522357.1 | 1224 | Missense Mutation | CAC,CGC | H,R 453 | XP_011520659.1 | |
XM_011522358.2 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520660.1 | |
XM_011522359.1 | 1224 | Missense Mutation | CAC,CGC | H,R 446 | XP_011520661.1 | |
XM_011522360.1 | 1224 | Missense Mutation | CAC,CGC | H,R 442 | XP_011520662.1 | |
XM_011522361.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520663.1 | |
XM_011522362.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520664.1 | |
XM_011522363.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520665.1 | |
XM_011522364.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_011520666.1 | |
XM_011522365.1 | 1224 | Missense Mutation | CAC,CGC | H,R 386 | XP_011520667.1 | |
XM_011522366.1 | 1224 | Missense Mutation | CAC,CGC | H,R 383 | XP_011520668.1 | |
XM_011522367.1 | 1224 | Missense Mutation | CAC,CGC | H,R 330 | XP_011520669.1 | |
XM_011522368.1 | 1224 | Missense Mutation | CAC,CGC | H,R 326 | XP_011520670.1 | |
XM_011522369.1 | 1224 | Missense Mutation | CAC,CGC | H,R 312 | XP_011520671.1 | |
XM_011522370.1 | 1224 | Missense Mutation | CAC,CGC | H,R 256 | XP_011520672.1 | |
XM_011522371.2 | 1224 | Missense Mutation | CAC,CGC | H,R 161 | XP_011520673.1 | |
XM_017022929.1 | 1224 | Missense Mutation | CAC,CGC | H,R 457 | XP_016878418.1 | |
XM_017022930.1 | 1224 | Missense Mutation | CAC,CGC | H,R 157 | XP_016878419.1 | |
XM_017022931.1 | 1224 | Intron | XP_016878420.1 | |||
XM_017022932.1 | 1224 | Missense Mutation | CAC,CGC | H,R 67 | XP_016878421.1 |
FAM173A - family with sequence similarity 173 member A | ||||||
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There are no transcripts associated with this gene. |
HAGHL - hydroxyacylglutathione hydrolase-like | ||||||
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There are no transcripts associated with this gene. |
METRN - meteorin, glial cell differentiation regulator | ||||||
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There are no transcripts associated with this gene. |
NARFL - nuclear prelamin A recognition factor like | ||||||
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There are no transcripts associated with this gene. |