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TGCGGCCTCCTGGCCCCGGCTGCCC[A/G]CGCCGGCTACTCCGAGGAGCGCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614666 MIM: 609082 MIM: 610998 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC78 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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CCDC78 - coiled-coil domain containing 78 | ||||||
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There are no transcripts associated with this gene. |
FAM173A - family with sequence similarity 173 member A | ||||||
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There are no transcripts associated with this gene. |
FBXL16 - F-box and leucine rich repeat protein 16 | ||||||
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There are no transcripts associated with this gene. |
METRN - meteorin, glial cell differentiation regulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024042.3 | 182 | Missense Mutation | CAC,CGC | H,R 22 | NP_076947.1 |