Product Details
- SNP ID
-
rs200102278
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:132194971 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGGGCAGGCAGCATGTCTTGTTC[A/G]GTAGTCACCTTCCCCGCTCCGCAAG
- Phenotype
-
MIM: 600608
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
P4HA2
PubMed Links
Gene Details
- Gene
- P4HA2
- Gene Name
- prolyl 4-hydroxylase subunit alpha 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001017973.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
NP_001017973.1 |
NM_001017974.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
NP_001017974.1 |
NM_001142598.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
NP_001136070.1 |
NM_001142599.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
NP_001136071.1 |
NM_004199.2 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
NP_004190.1 |
XM_005272116.4 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_005272173.1 |
XM_005272117.4 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_005272174.1 |
XM_005272118.4 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_005272175.1 |
XM_005272119.4 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_005272176.1 |
XM_005272120.4 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_005272177.1 |
XM_006714728.3 |
1401 |
Nonsense Mutation |
CGA,TGA |
R498* |
XP_006714791.1 |
XM_006714729.3 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
XP_006714792.1 |
XM_006714730.3 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
XP_006714793.1 |
XM_011543705.2 |
1401 |
Nonsense Mutation |
CGA,TGA |
R439* |
XP_011542007.1 |
XM_017010011.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R496* |
XP_016865500.1 |
XM_017010012.1 |
1401 |
Nonsense Mutation |
CGA,TGA |
R437* |
XP_016865501.1 |
- Gene
- P4HA2-AS1
- Gene Name
- P4HA2 antisense RNA 1
There are no transcripts associated with this gene.
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