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CACGGACCTCTCGGGCGCCTCCTCC[A/T]CCTCCCTGCCTTCCTCTCCATCCTC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 602343 | |||||||||||||||||||||||
Literature Links: |
TRPC1 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 - 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 |
TRPC1 - transient receptor potential cation channel subfamily C member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001251845.1 | 15 | Missense Mutation | ACC,TCC | T,S 17 | NP_001238774.1 | |
NM_003304.4 | 15 | Missense Mutation | ACC,TCC | T,S 17 | NP_003295.1 | |
XM_005247738.3 | 15 | UTR 5 | XP_005247795.1 | |||
XM_005247739.2 | 15 | UTR 5 | XP_005247796.1 | |||
XM_017007121.1 | 15 | Intron | XP_016862610.1 | |||
XM_017007122.1 | 15 | Intron | XP_016862611.1 |