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CTGGCTAGCCTGGCCACCAACAGGA[A/G]CCACCTGCCGCTGGGTCCCTGCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602607 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC22A1 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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SLC22A1 - solute carrier family 22 member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003057.2 | 488 | Missense Mutation | AAC,AGC | N,S 114 | NP_003048.1 | |
NM_153187.1 | 488 | Missense Mutation | AAC,AGC | N,S 114 | NP_694857.1 | |
XM_005267102.4 | 488 | Missense Mutation | AAC,AGC | N,S 114 | XP_005267159.1 | |
XM_005267103.1 | 488 | Missense Mutation | AAC,AGC | N,S 114 | XP_005267160.1 | |
XM_005267104.4 | 488 | Intron | XP_005267161.1 | |||
XM_005267105.4 | 488 | Intron | XP_005267162.1 | |||
XM_006715552.1 | 488 | Missense Mutation | AAC,AGC | N,S 114 | XP_006715615.1 | |
XM_011536074.2 | 488 | Intron | XP_011534376.1 |