Product Details
- SNP ID
-
rs115548009
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:46303982 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGAGACCGAGGTGCTGTACCAGCT[A/G]GCTCACACGCTGCCCTTCGCCCGCG
- Phenotype
-
MIM: 609976
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HIF3A
PubMed Links
Gene Details
- Gene
- HIF3A
- Gene Name
- hypoxia inducible factor 3 alpha subunit
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_022462.4 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
NP_071907.4 |
NM_152794.3 |
270 |
Silent Mutation |
CTA,CTG |
L35L |
NP_690007.1 |
NM_152795.3 |
270 |
Silent Mutation |
CTA,CTG |
L37L |
NP_690008.2 |
NM_152796.2 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
NP_690009.1 |
XM_005259152.4 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_005259209.1 |
XM_005259153.3 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
XP_005259210.2 |
XM_005259155.4 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_005259212.1 |
XM_005259156.4 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_005259213.1 |
XM_017027132.1 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_016882621.1 |
XM_017027133.1 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_016882622.1 |
XM_017027134.1 |
270 |
Silent Mutation |
CTA,CTG |
L37L |
XP_016882623.1 |
XM_017027135.1 |
270 |
Silent Mutation |
CTA,CTG |
L35L |
XP_016882624.1 |
XM_017027136.1 |
270 |
Silent Mutation |
CTA,CTG |
L81L |
XP_016882625.1 |
XM_017027137.1 |
270 |
Silent Mutation |
CTA,CTG |
L35L |
XP_016882626.1 |
XM_017027138.1 |
270 |
Silent Mutation |
CTA,CTG |
L37L |
XP_016882627.1 |
XM_017027139.1 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
XP_016882628.1 |
XM_017027140.1 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
XP_016882629.1 |
XM_017027141.1 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
XP_016882630.1 |
XM_017027142.1 |
270 |
Nonsense Mutation |
TAG,TGG |
*17W |
XP_016882631.1 |
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