Product Details

SNP ID
rs11556432
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:155312319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTTGACGGTGGTAGTAGCATTCC[G/T]GGAGCTGGTGGAGCCAAGGAAACAG
Phenotype
MIM: 134629
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_001135821.1 623 Missense Mutation CGG,CTG R135L NP_001129293.1
NM_001135822.1 623 Intron NP_001129294.1
NM_001242824.1 623 Intron NP_001229753.1
NM_001242825.1 623 Intron NP_001229754.1
NM_002004.3 623 Missense Mutation CGG,CTG R135L NP_001995.1
XM_005244962.1 623 Intron XP_005245019.1
XM_005244963.1 623 Intron XP_005245020.1
Gene
LOC105371451
Gene Name
uncharacterized LOC105371451
There are no transcripts associated with this gene.

Gene
RUSC1
Gene Name
RUN and SH3 domain containing 1
There are no transcripts associated with this gene.

Gene
RUSC1-AS1
Gene Name
RUSC1 antisense RNA 1
There are no transcripts associated with this gene.

View Full Product Details