Product Details

SNP ID

rs199598871

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:54360706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTTTCACTATAAAGATAAGCTGT[A/G]CAGATCTGCTTCTCAAGCTCTACAG

Phenotype

MIM: 613258 MIM: 607051

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C18orf54 PubMed Links

Additional Information

For this assay, SNP(s) [rs1657904] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

C18orf54

Gene Name

chromosome 18 open reading frame 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288980.1	268	Missense Mutation	TAC,TGC	Y45C	NP_001275909.1
NM_001288981.1	268	Missense Mutation	TAC,TGC	Y45C	NP_001275910.1
NM_001288982.1	268	Missense Mutation	TAC,TGC	Y45C	NP_001275911.1
NM_173529.5	268	Missense Mutation	TAC,TGC	Y45C	NP_775800.3
XM_005258201.1	268	Missense Mutation	TAC,TGC	Y45C	XP_005258258.1
XM_005258203.1	268	Missense Mutation	TAC,TGC	Y45C	XP_005258260.1
XM_017025567.1	268	Missense Mutation	TAC,TGC	Y45C	XP_016881056.1

Gene

STARD6

Gene Name

StAR related lipid transfer domain containing 6

There are no transcripts associated with this gene.

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