Product Details

SNP ID

rs1787822

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:54357949 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAAAGCGAGCGCGGGTGTCGAGCTC[C/T]GCTGTGACTGCGGAGGAAGCTGCGA

Phenotype

MIM: 613258 MIM: 607051

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C18orf54 PubMed Links

Additional Information

For this assay, SNP(s) [rs150193507] 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	33	UTR 5			NP_001275909.1
NM_001288981.1	33	UTR 5			NP_001275910.1
NM_001288982.1	33	Intron			NP_001275911.1
NM_173529.5	33	Intron			NP_775800.3
XM_005258201.1	33	UTR 5			XP_005258258.1
XM_005258203.1	33	UTR 5			XP_005258260.1
XM_017025567.1	33	Intron			XP_016881056.1

Gene

STARD6

Gene Name

StAR related lipid transfer domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139171.1	33	Intron			NP_631910.1
XM_011525821.1	33	Intron			XP_011524123.1
XM_017025552.1	33	Intron			XP_016881041.1
XM_017025553.1	33	Intron			XP_016881042.1
XM_017025554.1	33	Intron			XP_016881043.1

View Full Product Details