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GACGCTGGCGCCCAGCGAGGTCAGC[T/C]GCGTCTCCTTCACGTTCACAATCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 147520 MIM: 610206 | ||||||||||||||||||||
Literature Links: |
ITPA 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 |
ITPA - inosine triphosphatase | ||||||
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There are no transcripts associated with this gene. |
SLC4A11 - solute carrier family 4 member 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001174089.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 739 | NP_001167560.1 | |
NM_001174090.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 782 | NP_001167561.1 | |
NM_032034.3 | 2339 | Missense Mutation | CAG,CGG | Q,R 755 | NP_114423.1 | |
XM_005260856.4 | 2339 | Missense Mutation | CAG,CGG | Q,R 862 | XP_005260913.1 | |
XM_005260857.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 720 | XP_005260914.1 | |
XM_011529383.2 | 2339 | Missense Mutation | CAG,CGG | Q,R 728 | XP_011527685.1 | |
XM_011529384.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 720 | XP_011527686.1 | |
XM_011529385.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 720 | XP_011527687.1 | |
XM_017028093.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 860 | XP_016883582.1 | |
XM_017028094.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 720 | XP_016883583.1 | |
XM_017028095.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 701 | XP_016883584.1 | |
XM_017028096.1 | 2339 | Missense Mutation | CAG,CGG | Q,R 720 | XP_016883585.1 | |
XM_017028097.1 | 2339 | Intron | XP_016883586.1 |