Product Details

SNP ID

rs200970711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:69054362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCCATTGAGCTTCTTGGTTTCA[A/G]AAGGGTGCTCTACAGAGCCGCTATT

Phenotype

MIM: 603812

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DCAF5 PubMed Links

Gene Details

Gene

DCAF5

Gene Name

DDB1 and CUL4 associated factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284206.1	2540	Missense Mutation	TCT,TTT	S774F	NP_001271135.1
NM_001284207.1	2540	Missense Mutation	TCT,TTT	S693F	NP_001271136.1
NM_001284208.1	2540	Intron			NP_001271137.1
NM_003861.2	2540	Missense Mutation	TCT,TTT	S775F	NP_003852.1
XM_006720297.2	2540	Missense Mutation	TCT,TTT	S810F	XP_006720360.1
XM_006720298.2	2540	Missense Mutation	TCT,TTT	S809F	XP_006720361.1
XM_006720299.3	2540	Missense Mutation	TCT,TTT	S728F	XP_006720362.1
XM_006720300.2	2540	Missense Mutation	TCT,TTT	S727F	XP_006720363.1
XM_011537278.1	2540	Missense Mutation	TCT,TTT	S728F	XP_011535580.1
XM_011537279.2	2540	Missense Mutation	TCT,TTT	S728F	XP_011535581.1
XM_011537280.2	2540	Missense Mutation	TCT,TTT	S593F	XP_011535582.1
XM_017021733.1	2540	Missense Mutation	TCT,TTT	S728F	XP_016877222.1
XM_017021734.1	2540	Missense Mutation	TCT,TTT	S693F	XP_016877223.1
XM_017021735.1	2540	Missense Mutation	TCT,TTT	S693F	XP_016877224.1
XM_017021736.1	2540	Missense Mutation	TCT,TTT	S692F	XP_016877225.1
XM_017021737.1	2540	Missense Mutation	TCT,TTT	S558F	XP_016877226.1
XM_017021738.1	2540	Missense Mutation	TCT,TTT	S496F	XP_016877227.1
XM_017021739.1	2540	Missense Mutation	TCT,TTT	S496F	XP_016877228.1

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