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CTTCTCAGCCGCCATCCCAGGCCAC[C/T]GATGCTGGACACACATGCTGGACAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607097 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC22A11 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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SLC22A11 - solute carrier family 22 member 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307985.1 | 541 | Nonsense Mutation | CGA,TGA | R,* 48 | NP_001294914.1 | |
NM_018484.3 | 541 | Nonsense Mutation | CGA,TGA | R,* 48 | NP_060954.1 | |
XM_011545167.1 | 541 | UTR 5 | XP_011543469.1 |