Product Details
- SNP ID
-
rs199634796
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:3228560 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGCGCTGGACGAGCTGGTTGCCATC[A/G]AGGGAGGTGAGCGCGATGTAGAGGA
- Phenotype
-
MIM: 147520
MIM: 610206
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ITPA
PubMed Links
Gene Details
- Gene
- ITPA
- Gene Name
- inosine triphosphatase
There are no transcripts associated with this gene.
- Gene
- SLC4A11
- Gene Name
- solute carrier family 4 member 11
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001174089.1 |
2463 |
Silent Mutation |
CTC,CTT |
L780L |
NP_001167560.1 |
| NM_001174090.1 |
2463 |
Silent Mutation |
CTC,CTT |
L823L |
NP_001167561.1 |
| NM_032034.3 |
2463 |
Silent Mutation |
CTC,CTT |
L796L |
NP_114423.1 |
| XM_005260856.4 |
2463 |
Silent Mutation |
CTC,CTT |
L903L |
XP_005260913.1 |
| XM_005260857.1 |
2463 |
Silent Mutation |
CTC,CTT |
L761L |
XP_005260914.1 |
| XM_011529383.2 |
2463 |
Silent Mutation |
CTC,CTT |
L769L |
XP_011527685.1 |
| XM_011529384.1 |
2463 |
Silent Mutation |
CTC,CTT |
L761L |
XP_011527686.1 |
| XM_011529385.1 |
2463 |
Silent Mutation |
CTC,CTT |
L761L |
XP_011527687.1 |
| XM_017028093.1 |
2463 |
Silent Mutation |
CTC,CTT |
L901L |
XP_016883582.1 |
| XM_017028094.1 |
2463 |
Silent Mutation |
CTC,CTT |
L761L |
XP_016883583.1 |
| XM_017028095.1 |
2463 |
Silent Mutation |
CTC,CTT |
L742L |
XP_016883584.1 |
| XM_017028096.1 |
2463 |
Silent Mutation |
CTC,CTT |
L761L |
XP_016883585.1 |
| XM_017028097.1 |
2463 |
Intron |
|
|
XP_016883586.1 |
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