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CCTGGCTAACGTCTGTGGCTGTGCC[A/G]TCTCCCTCCTGGGGCTGGTGGAGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616861 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC12A9 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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SLC12A9 - solute carrier family 12 member 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267812.1 | 560 | Missense Mutation | ATC,GTC | I,V 134 | NP_001254741.1 | |
NM_001267814.1 | 560 | Intron | NP_001254743.1 | |||
NM_020246.3 | 560 | Missense Mutation | ATC,GTC | I,V 134 | NP_064631.2 | |
XM_005250502.2 | 560 | Intron | XP_005250559.1 | |||
XM_005250504.4 | 560 | Intron | XP_005250561.1 | |||
XM_006716054.2 | 560 | Intron | XP_006716117.1 | |||
XM_006716055.2 | 560 | Missense Mutation | ATC,GTC | I,V 134 | XP_006716118.1 | |
XM_011516414.1 | 560 | Intron | XP_011514716.1 |