Product Details

SNP ID

rs199692317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:118465484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCTTAATTCATCAATGTCTCTT[C/T]GTAACTGGCACACATCTGACAGCTT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP85L PubMed Links

Gene Details

Gene

CEP85L

Gene Name

centrosomal protein 85 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042475.2	3518	Missense Mutation	CAA,CGA	Q780R	NP_001035940.1
NM_001178035.1	3518	Missense Mutation	CAA,CGA	Q783R	NP_001171506.1
NM_206921.2	3518	Intron			NP_996804.2
XM_005266970.1	3518	Missense Mutation	CAA,CGA	Q678R	XP_005267027.1
XM_005266971.1	3518	Missense Mutation	CAA,CGA	Q678R	XP_005267028.1
XM_005266972.4	3518	Missense Mutation	CAA,CGA	Q418R	XP_005267029.1
XM_006715475.3	3518	Missense Mutation	CAA,CGA	Q678R	XP_006715538.1
XM_011535809.2	3518	Missense Mutation	CAA,CGA	Q780R	XP_011534111.1
XM_011535810.2	3518	Missense Mutation	CAA,CGA	Q723R	XP_011534112.1
XM_011535811.1	3518	Missense Mutation	CAA,CGA	Q678R	XP_011534113.1
XM_017010846.1	3518	Missense Mutation	CAA,CGA	Q783R	XP_016866335.1
XM_017010847.1	3518	Missense Mutation	CAA,CGA	Q720R	XP_016866336.1

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