Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCCTCCGGCTTCCCCAGCCCGGCC[T/C]CAGTGCCGGGCCCCAGGGAGGCCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602872 MIM: 603382 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLIC1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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CLIC1 - chloride intracellular channel 1 | ||||||
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There are no transcripts associated with this gene. |
MSH5 - mutS homolog 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002441.4 | 213 | Missense Mutation | CCA,TCA | P,S 29 | NP_002432.1 | |
NM_025259.5 | 213 | Missense Mutation | CCA,TCA | P,S 29 | NP_079535.4 | |
NM_172165.3 | 213 | Missense Mutation | CCA,TCA | P,S 29 | NP_751897.1 | |
NM_172166.3 | 213 | Missense Mutation | CCA,TCA | P,S 29 | NP_751898.1 |
MSH5-SAPCD1 - MSH5-SAPCD1 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |