Product Details

SNP ID

rs146520790

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:167936921 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTCAGGCAGAGCCATGTCTCGG[C/G]GTGGCTCCTACCCACACCTGTTGTG

Phenotype

MIM: 610494 MIM: 614737

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DCAF6 PubMed Links

Gene Details

Gene

DCAF6

Gene Name

DDB1 and CUL4 associated factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017977.2	304	Missense Mutation	CGT,GGT	R4G	NP_001017977.1
NM_001198956.1	304	Missense Mutation	CGT,GGT	R4G	NP_001185885.1
NM_001198957.1	304	Missense Mutation	CGT,GGT	R4G	NP_001185886.1
NM_018442.3	304	Missense Mutation	CGT,GGT	R4G	NP_060912.2
XM_005245331.4	304	Missense Mutation	CGT,GGT	R4G	XP_005245388.1
XM_005245332.4	304	Missense Mutation	CGT,GGT	R4G	XP_005245389.1
XM_005245333.4	304	Missense Mutation	CGT,GGT	R4G	XP_005245390.1
XM_017001779.1	304	Intron			XP_016857268.1
XM_017001780.1	304	Intron			XP_016857269.1
XM_017001781.1	304	Intron			XP_016857270.1

Gene

MPC2

Gene Name

mitochondrial pyruvate carrier 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143674.3	304	Intron			NP_001137146.1
NM_015415.3	304	Intron			NP_056230.1
XM_006711266.3	304	Intron			XP_006711329.1

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