Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTGAGAAGAAAATTAGGGGAAGAC[G/T]GGATCTTTCTGGTGCTTCTGGGACT
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 118425 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLCN1 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
|
||||||||
AMR
|
CLCN1 - chloride voltage-gated channel 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000083.2 | 297 | Missense Mutation | GGG,TGG | G,W 118 | NP_000074.2 | |
XM_011515782.2 | 297 | Intron | XP_011514084.1 | |||
XM_017011739.1 | 297 | Missense Mutation | CGG,CTG | R,L 20 | XP_016867228.1 | |
XM_017011740.1 | 297 | Missense Mutation | CGG,CTG | R,L 20 | XP_016867229.1 |
Set Membership: |
HapMap |