Product Details

SNP ID
rs74519820
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82430869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCCCGCCGAAGTCACCGTGATC[C/G]TGTTAGATATCGAAGGTACCACAAC
Phenotype
MIM: 607137
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ENOPH1 PubMed Links

Gene Details

Gene
ENOPH1
Gene Name
enolase-phosphatase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292017.1 390 UTR 5 NP_001278946.1
NM_021204.4 390 Missense Mutation CTG,GTG L14V NP_067027.1
Gene
HNRNPDL
Gene Name
heterogeneous nuclear ribonucleoprotein D like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207000.1 390 Intron NP_001193929.1
NM_031372.3 390 Intron NP_112740.1

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