Product Details

SNP ID
rs74118444
Assay Type
Functionally tested
NCBI dbSNP Submissions
25
Location
Chr.1:155321472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCAGAGCGCAGCCGCGTTCTCT[G/T]ACCCTCCCGGCTCCATTCCCGGGGG
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 98 Intron NP_001129293.1
NM_001135822.1 98 Intron NP_001129294.1
NM_001242824.1 98 Intron NP_001229753.1
NM_001242825.1 98 Intron NP_001229754.1
NM_002004.3 98 Intron NP_001995.1
XM_005244962.1 98 Intron XP_005245019.1
XM_005244963.1 98 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105203.1 98 Intron NP_001098673.1
NM_001105204.1 98 Intron NP_001098674.1
NM_001105205.1 98 Intron NP_001098675.1
NM_001278227.1 98 Intron NP_001265156.1
NM_001278228.1 98 Intron NP_001265157.1
NM_001278229.1 98 Intron NP_001265158.1
NM_001278230.1 98 Intron NP_001265159.1
NM_014328.4 98 Intron NP_055143.2
XM_006711254.1 98 Intron XP_006711317.1
XM_006711256.1 98 Intron XP_006711319.1
XM_006711257.1 98 Intron XP_006711320.1
XM_017000891.1 98 UTR 5 XP_016856380.1
XM_017000892.1 98 Intron XP_016856381.1
Gene
RUSC1-AS1
Gene Name
RUSC1 antisense RNA 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039517.1 98 Nonsense Mutation TAA,TCA *6S NP_001034606.1

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