Product Details
- SNP ID
-
rs138851144
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:78113875 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGTACTCCTTAGAGCCAGTTGCTG[C/T]AGAACTCAAATCTCTGCTGGGCAAG
- Phenotype
-
MIM: 311800
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PGK1
PubMed Links
Gene Details
- Gene
- PGK1
- Gene Name
- phosphoglycerate kinase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000291.3 |
420 |
Missense Mutation |
GCA,GTA |
A83V |
NP_000282.1 |
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