Product Details
- SNP ID
-
hCV12631
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:78113893 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTGCTGTAGAACTCAAATCTCTGC[T/C]GGGCAAGTAAGTGCCAGGCTCTGGT
- Phenotype
-
MIM: 311800
- Polymorphism
- T/C, 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 |
438 |
Missense Mutation |
CCG,CTG |
P89L |
NP_000282.1 |
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