Product Details
- SNP ID
-
rs138544965
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
18
- Location
-
Chr.1:212997307 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGACAAACTGAAATGGTGCTGTAAA[A/T]TTGAAGACAATCTAAATAGAAAAGA
- Phenotype
-
MIM: 610471
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ANGEL2
PubMed Links
Gene Details
- Gene
- ANGEL2
- Gene Name
- angel homolog 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001300753.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
NP_001287682.1 |
NM_001300755.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
NP_001287684.1 |
NM_001300757.1 |
1484 |
Missense Mutation |
AAT,ATT |
N275I |
NP_001287686.1 |
NM_001300758.1 |
1484 |
Missense Mutation |
AAT,ATT |
N275I |
NP_001287687.1 |
NM_144567.4 |
1484 |
Missense Mutation |
AAT,ATT |
N444I |
NP_653168.2 |
XM_005273344.1 |
1484 |
Missense Mutation |
AAT,ATT |
N422I |
XP_005273401.1 |
XM_005273345.1 |
1484 |
Missense Mutation |
AAT,ATT |
N422I |
XP_005273402.1 |
XM_005273346.2 |
1484 |
Missense Mutation |
AAT,ATT |
N422I |
XP_005273403.1 |
XM_005273347.3 |
1484 |
Missense Mutation |
AAT,ATT |
N365I |
XP_005273404.1 |
XM_017002774.1 |
1484 |
Missense Mutation |
AAT,ATT |
N422I |
XP_016858263.1 |
XM_017002775.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
XP_016858264.1 |
XM_017002776.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
XP_016858265.1 |
XM_017002777.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
XP_016858266.1 |
XM_017002778.1 |
1484 |
Missense Mutation |
AAT,ATT |
N318I |
XP_016858267.1 |
- Gene
- VASH2
- Gene Name
- vasohibin 2
There are no transcripts associated with this gene.
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