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CTCTGGATGAGCAGGTCCATGCATC[A/G]GCCATATTTCCTGGCGAAGGGCAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609526 | ||||||||||||||||||||
Literature Links: |
KCTD19 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 |
KCTD19 - potassium channel tetramerization domain containing 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100915.1 | 2749 | Nonsense Mutation | CGA,TGA | R,* 900 | NP_001094385.1 |
PLEKHG4 - pleckstrin homology and RhoGEF domain containing G4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001129727.2 | 2749 | Intron | NP_001123199.1 | |||
NM_001129728.1 | 2749 | Intron | NP_001123200.1 | |||
NM_001129729.2 | 2749 | Intron | NP_001123201.1 | |||
NM_001129731.2 | 2749 | Intron | NP_001123203.1 | |||
XM_011522985.2 | 2749 | Intron | XP_011521287.1 | |||
XM_011522986.2 | 2749 | Intron | XP_011521288.1 | |||
XM_011522987.2 | 2749 | Intron | XP_011521289.1 | |||
XM_011522988.2 | 2749 | Intron | XP_011521290.1 |