Product Details
- SNP ID
-
rs142045379
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:6431739 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGGGTCCCGACTTCCTTCTCCAGC[C/T]GCTTCGGATAACCGCTTACTAGGGT
- Phenotype
-
MIM: 142290
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HPX
PubMed Links
Gene Details
- Gene
- HPX
- Gene Name
- hemopexin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000613.2 |
1092 |
Missense Mutation |
CAG,CGG |
Q344R |
NP_000604.1 |
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