Product Details
- SNP ID
-
rs143638319
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
7
- Location
-
Chr.1:109496237 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACCAGATTTCCAGATCCTACTTGC[C/T]GAGGAAGAAAATGGAAATGTGAGTT
- Phenotype
-
MIM: 615689
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AMIGO1
PubMed Links
Gene Details
- Gene
- AMIGO1
- Gene Name
- adhesion molecule with Ig like domain 1
There are no transcripts associated with this gene.
- Gene
- ATXN7L2
- Gene Name
- ataxin 7 like 2
There are no transcripts associated with this gene.
- Gene
- CYB561D1
- Gene Name
- cytochrome b561 family member D1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001134400.1 |
1922 |
Missense Mutation |
CCG,CTG |
P245L |
NP_001127872.1 |
| NM_001134402.1 |
1922 |
Missense Mutation |
CCG,CTG |
P166L |
NP_001127874.1 |
| NM_001134403.1 |
1922 |
UTR 3 |
|
|
NP_001127875.1 |
| NM_001134404.1 |
1922 |
UTR 3 |
|
|
NP_001127876.1 |
| NM_182580.2 |
1922 |
Missense Mutation |
CCG,CTG |
P223L |
NP_872386.1 |
| XM_005270775.2 |
1922 |
Missense Mutation |
CCG,CTG |
P185L |
XP_005270832.1 |
| XM_005270776.3 |
1922 |
Missense Mutation |
CCG,CTG |
P165L |
XP_005270833.1 |
| XM_005270777.2 |
1922 |
Missense Mutation |
CCG,CTG |
P157L |
XP_005270834.1 |
| XM_011541286.2 |
1922 |
Missense Mutation |
CCG,CTG |
P185L |
XP_011539588.1 |
| XM_011541287.2 |
1922 |
Missense Mutation |
CCG,CTG |
P284L |
XP_011539589.2 |
| XM_017001078.1 |
1922 |
Missense Mutation |
CCG,CTG |
P165L |
XP_016856567.1 |
| XM_017001079.1 |
1922 |
Missense Mutation |
CCG,CTG |
P165L |
XP_016856568.1 |
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