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AGGCTGGAGTTCCTGAGGGTGCTGC[C/T]GGCCCTGCCACCGCCGCCAGGGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300281 MIM: 300713 | ||||||||||||||||||||
Literature Links: |
KCND1 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 |
KCND1 - potassium voltage-gated channel subfamily D member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004979.5 | 2182 | Missense Mutation | AGC,GGC | S,G 624 | NP_004970.3 | |
XM_011543910.2 | 2182 | Missense Mutation | AGC,GGC | S,G 624 | XP_011542212.1 | |
XM_017029508.1 | 2182 | Missense Mutation | AGC,GGC | S,G 535 | XP_016884997.1 | |
XM_017029509.1 | 2182 | Missense Mutation | AGC,GGC | S,G 535 | XP_016884998.1 | |
XM_017029510.1 | 2182 | Intron | XP_016884999.1 |
OTUD5 - OTU deubiquitinase 5 | ||||||
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There are no transcripts associated with this gene. |