Product Details
- SNP ID
-
rs114497844
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:215361907 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAACACTTGGTTCATTCTGAAGAAA[C/G]ATACCTGTAGAAAGAGACTGTCTAG
- Phenotype
-
MIM: 601731
MIM: 135600
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ATIC
PubMed Links
Gene Details
- Gene
- ATIC
- Gene Name
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
There are no transcripts associated with this gene.
- Gene
- FN1
- Gene Name
- fibronectin 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001306129.1 |
7714 |
Intron |
|
|
NP_001293058.1 |
NM_001306130.1 |
7714 |
Intron |
|
|
NP_001293059.1 |
NM_001306131.1 |
7714 |
Intron |
|
|
NP_001293060.1 |
NM_001306132.1 |
7714 |
Intron |
|
|
NP_001293061.1 |
NM_002026.3 |
7714 |
Intron |
|
|
NP_002017.1 |
NM_054034.2 |
7714 |
Intron |
|
|
NP_473375.2 |
NM_212474.2 |
7714 |
Intron |
|
|
NP_997639.1 |
NM_212476.2 |
7714 |
Intron |
|
|
NP_997641.1 |
NM_212478.2 |
7714 |
Intron |
|
|
NP_997643.1 |
NM_212482.2 |
7714 |
Intron |
|
|
NP_997647.1 |
XM_005246397.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2475C |
XP_005246454.1 |
XM_005246398.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2450C |
XP_005246455.1 |
XM_005246399.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2444C |
XP_005246456.1 |
XM_005246401.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2419C |
XP_005246458.1 |
XM_005246402.1 |
7714 |
Intron |
|
|
XP_005246459.1 |
XM_005246403.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2385C |
XP_005246460.1 |
XM_005246404.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2384C |
XP_005246461.1 |
XM_005246405.1 |
7714 |
Intron |
|
|
XP_005246462.1 |
XM_005246406.1 |
7714 |
Intron |
|
|
XP_005246463.1 |
XM_005246407.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2355C |
XP_005246464.1 |
XM_005246408.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2354C |
XP_005246465.1 |
XM_005246409.1 |
7714 |
Intron |
|
|
XP_005246466.1 |
XM_005246410.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2329C |
XP_005246467.1 |
XM_005246411.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2265C |
XP_005246468.1 |
XM_005246412.1 |
7714 |
Intron |
|
|
XP_005246469.1 |
XM_005246414.1 |
7714 |
Intron |
|
|
XP_005246471.1 |
XM_005246416.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2238C |
XP_005246473.1 |
XM_017003692.1 |
7714 |
Intron |
|
|
XP_016859181.1 |
XM_017003693.1 |
7714 |
Intron |
|
|
XP_016859182.1 |
XM_017003694.1 |
7714 |
Intron |
|
|
XP_016859183.1 |
XM_017003695.1 |
7714 |
Missense Mutation |
TCT,TGT |
S2294C |
XP_016859184.1 |
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