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GGATAATCCTTCTTCATAGGTGTAA[A/G]ATGTAGGGATGTCCCCCTGTCCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602158 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLNS1A 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
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CLNS1A - chloride nucleotide-sensitive channel 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001293.2 | 592 | Intron | NP_001284.1 | |||
NM_001311199.1 | 592 | Missense Mutation | TCT,TTT | S,F 167 | NP_001298128.1 | |
NM_001311200.1 | 592 | Intron | NP_001298129.1 | |||
NM_001311201.1 | 592 | Intron | NP_001298130.1 | |||
NM_001311202.1 | 592 | Intron | NP_001298131.1 |
LOC107987163 - uncharacterized LOC107987163 | ||||||
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There are no transcripts associated with this gene. |