Product Details

SNP ID
rs74118445
Assay Type
Functionally Tested
NCBI dbSNP Submissions
25
Location
Chr.1:155322284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCCTGATTCCTGCTCCGGAGCT[G/T]CTTCTTCACCCGATCCTGGCCTGGA
Phenotype
MIM: 134629
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
FDPS PubMed Links

Gene Details

Gene
FDPS
Gene Name
farnesyl diphosphate synthase
There are no transcripts associated with this gene.

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_001105203.1 740 Missense Mutation GCT,TCT A171S NP_001098673.1
NM_001105204.1 740 Missense Mutation GCT,TCT A171S NP_001098674.1
NM_001105205.1 740 Intron NP_001098675.1
NM_001278227.1 740 Intron NP_001265156.1
NM_001278228.1 740 Intron NP_001265157.1
NM_001278229.1 740 Intron NP_001265158.1
NM_001278230.1 740 Intron NP_001265159.1
NM_014328.4 740 Intron NP_055143.2
XM_006711254.1 740 Missense Mutation GCT,TCT A171S XP_006711317.1
XM_006711256.1 740 Missense Mutation GCT,TCT A171S XP_006711319.1
XM_006711257.1 740 Intron XP_006711320.1
XM_017000891.1 740 Missense Mutation GCT,TCT A171S XP_016856380.1
XM_017000892.1 740 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_001039517.1 740 Intron NP_001034606.1

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