Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGCCAGTCAAGGCCTGTGCTCAGC[A/G]TCCATGACATCCAAGTACTTGGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 147520 MIM: 610206 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ITPA PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ITPA - inosine triphosphatase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267623.1 | 2733 | Intron | NP_001254552.1 | |||
NM_001324236.1 | 2733 | Intron | NP_001311165.1 | |||
NM_001324237.1 | 2733 | Intron | NP_001311166.1 | |||
NM_001324238.1 | 2733 | Intron | NP_001311167.1 | |||
NM_001324240.1 | 2733 | Intron | NP_001311169.1 | |||
NM_033453.3 | 2733 | Intron | NP_258412.1 | |||
NM_181493.3 | 2733 | Intron | NP_852470.1 | |||
XM_006723564.3 | 2733 | Intron | XP_006723627.1 | |||
XM_006723565.3 | 2733 | Intron | XP_006723628.1 | |||
XM_011529234.2 | 2733 | Intron | XP_011527536.1 |
SLC4A11 - solute carrier family 4 member 11 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001174089.1 | 2733 | Silent Mutation | NP_001167560.1 | |||
NM_001174090.1 | 2733 | Silent Mutation | NP_001167561.1 | |||
NM_032034.3 | 2733 | Silent Mutation | NP_114423.1 | |||
XM_005260856.4 | 2733 | Silent Mutation | XP_005260913.1 | |||
XM_005260857.1 | 2733 | Silent Mutation | XP_005260914.1 | |||
XM_011529383.2 | 2733 | Silent Mutation | XP_011527685.1 | |||
XM_011529384.1 | 2733 | Silent Mutation | XP_011527686.1 | |||
XM_011529385.1 | 2733 | Silent Mutation | XP_011527687.1 | |||
XM_017028093.1 | 2733 | Silent Mutation | XP_016883582.1 | |||
XM_017028094.1 | 2733 | Silent Mutation | XP_016883583.1 | |||
XM_017028095.1 | 2733 | Silent Mutation | XP_016883584.1 | |||
XM_017028096.1 | 2733 | Missense Mutation | XP_016883585.1 | |||
XM_017028097.1 | 2733 | Intron | XP_016883586.1 |