Product Details

SNP ID

rs1657904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:54360753 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAGGCTTATATTGATGATTTTGAT[C/T]TAGGCCAAATATATCCTGGTGCAAG

Phenotype

MIM: 613258 MIM: 607051

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C18orf54 PubMed Links

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	315	Silent Mutation	CTA,TTA	L61L	NP_001275909.1
NM_001288981.1	315	Silent Mutation	CTA,TTA	L61L	NP_001275910.1
NM_001288982.1	315	Silent Mutation	CTA,TTA	L61L	NP_001275911.1
NM_173529.5	315	Silent Mutation	CTA,TTA	L61L	NP_775800.3
XM_005258201.1	315	Silent Mutation	CTA,TTA	L61L	XP_005258258.1
XM_005258203.1	315	Silent Mutation	CTA,TTA	L61L	XP_005258260.1
XM_017025567.1	315	Silent Mutation	CTA,TTA	L61L	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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