Product Details
- SNP ID
-
rs202015253
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:6499914 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGAGCCGTTCGAACTGTCTCACCA[C/G]TTCCCTGCAGCTCCCGTAAGTCAGA
- Phenotype
-
MIM: 601922
MIM: 607117
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ANGPT2
PubMed Links
Gene Details
- Gene
- ANGPT2
- Gene Name
- angiopoietin 2
- Gene
- MCPH1
- Gene Name
- microcephalin 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001172574.1 |
2274 |
Intron |
|
|
NP_001166045.1 |
NM_001172575.1 |
2274 |
Intron |
|
|
NP_001166046.1 |
NM_001322042.1 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
NP_001308971.1 |
NM_001322043.1 |
2274 |
Intron |
|
|
NP_001308972.1 |
NM_001322045.1 |
2274 |
Intron |
|
|
NP_001308974.1 |
NM_024596.4 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
NP_078872.2 |
XM_011534755.2 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_011533057.1 |
XM_011534756.2 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_011533058.1 |
XM_011534757.2 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_011533059.1 |
XM_011534758.2 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_011533060.1 |
XM_011534759.2 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_011533061.1 |
XM_011534760.2 |
2274 |
Missense Mutation |
CAC,CAG |
H558Q |
XP_011533062.1 |
XM_017013829.1 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_016869318.1 |
XM_017013830.1 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_016869319.1 |
XM_017013831.1 |
2274 |
Missense Mutation |
CAC,CAG |
H666Q |
XP_016869320.1 |
XM_017013832.1 |
2274 |
Intron |
|
|
XP_016869321.1 |
XM_017013833.1 |
2274 |
Missense Mutation |
CAC,CAG |
H733Q |
XP_016869322.1 |
XM_017013834.1 |
2274 |
Intron |
|
|
XP_016869323.1 |
View Full Product Details