Product Details

SNP ID
rs200301122
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155310175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGGATGAGATGGGGCACCCAGA[G/T]ATAGGAGATGCTATTGCCCGGCTCA
Phenotype
MIM: 134629 MIM: 609712
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FDPS PubMed Links

Gene Details

Gene
FDPS
Gene Name
farnesyl diphosphate synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135821.1 528 Missense Mutation GAG,GAT E103D NP_001129293.1
NM_001135822.1 528 Intron NP_001129294.1
NM_001242824.1 528 Intron NP_001229753.1
NM_001242825.1 528 Intron NP_001229754.1
NM_002004.3 528 Missense Mutation GAG,GAT E103D NP_001995.1
XM_005244962.1 528 Intron XP_005245019.1
XM_005244963.1 528 Intron XP_005245020.1
Gene
LOC105371451
Gene Name
uncharacterized LOC105371451
There are no transcripts associated with this gene.

Gene
PKLR
Gene Name
pyruvate kinase, liver and RBC
There are no transcripts associated with this gene.

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