Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGTCCCGGCATCCCGCATCCTCT[C/T]CCTCCTCAGGTGCCAATGGCCTCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118425 | ||||||||||||||||||||
Literature Links: |
CLCN1 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 |
CLCN1 - chloride voltage-gated channel 1 | ||||||
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There are no transcripts associated with this gene. |
FAM131B - family with sequence similarity 131 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031690.2 | 1074 | Missense Mutation | GAA,GGA | E,G 313 | NP_001026860.2 | |
NM_001278297.1 | 1074 | Missense Mutation | GAA,GGA | E,G 219 | NP_001265226.1 | |
NM_014690.4 | 1074 | Missense Mutation | GAA,GGA | E,G 285 | NP_055505.3 | |
XM_005250073.3 | 1074 | Missense Mutation | GAA,GGA | E,G 285 | XP_005250130.1 | |
XM_006716186.2 | 1074 | Missense Mutation | GAA,GGA | E,G 253 | XP_006716249.1 |