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TTGTCGATGCCGCTGAATGGGCTGA[A/G]GGAGGAGGACAAAGAGCCCCTCATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
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Phenotype: |
MIM: 606536 | ||||||||||||||||||||
Literature Links: |
CLIC4 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 |
CLIC4 - chloride intracellular channel 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013943.2 | 317 | Missense Mutation | AAG,AGG | K,R 11 | NP_039234.1 |