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CTTCCTGGAGCACCGGCGCATGCGA[C/T]GTGCCGGCCAGGCCCTGAAGCTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613202 MIM: 602428 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHTF8 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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CHTF8 - chromosome transmission fidelity factor 8 | ||||||
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There are no transcripts associated with this gene. |
HAS3 - hyaluronan synthase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199280.1 | 305 | Missense Mutation | CGT,TGT | R,C 72 | NP_001186209.1 | |
NM_005329.2 | 305 | Missense Mutation | CGT,TGT | R,C 72 | NP_005320.2 | |
NM_138612.2 | 305 | Missense Mutation | CGT,TGT | R,C 72 | NP_619515.1 | |
XM_005255921.2 | 305 | Missense Mutation | CGT,TGT | R,C 72 | XP_005255978.1 | |
XM_011523061.2 | 305 | Missense Mutation | CGT,TGT | R,C 72 | XP_011521363.1 |