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GCCCTCACCCCAGCTGATCACCCCC[A/G]CCTGCAGCCACGACTGACCCACGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611285 MIM: 608018 | ||||||||||||||||||||
Literature Links: |
KCTD5 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 |
KCTD5 - potassium channel tetramerization domain containing 5 | ||||||
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There are no transcripts associated with this gene. |
PRSS27 - protease, serine 27 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318395.1 | 851 | Missense Mutation | GCG,GTG | A,V 142 | NP_001305324.1 | |
NM_031948.4 | 851 | Missense Mutation | GCG,GTG | A,V 244 | NP_114154.1 | |
XM_011522689.2 | 851 | Missense Mutation | GCG,GTG | A,V 142 | XP_011520991.1 |