Product Details

SNP ID

rs192310077

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155322767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGCGGGGCCCAGGGCTGCCCCTT[A/G]TCCCGCAGGCGAAGAAAGATCGCAG

Phenotype

MIM: 134629

Polymorphism

A/G, Transition 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	1223	Missense Mutation	ATC,GTC	I332V	NP_001098673.1
NM_001105204.1	1223	Missense Mutation	ATC,GTC	I332V	NP_001098674.1
NM_001105205.1	1223	Intron			NP_001098675.1
NM_001278227.1	1223	Intron			NP_001265156.1
NM_001278228.1	1223	Intron			NP_001265157.1
NM_001278229.1	1223	Intron			NP_001265158.1
NM_001278230.1	1223	Intron			NP_001265159.1
NM_014328.4	1223	Intron			NP_055143.2
XM_006711254.1	1223	Missense Mutation	ATC,GTC	I332V	XP_006711317.1
XM_006711256.1	1223	Missense Mutation	ATC,GTC	I332V	XP_006711319.1
XM_006711257.1	1223	Intron			XP_006711320.1
XM_017000891.1	1223	Missense Mutation	ATC,GTC	I332V	XP_016856380.1
XM_017000892.1	1223	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	1223	Intron			NP_001034606.1

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