Product Details

SNP ID

rs185188939

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:243221800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTTGATGACAGCGTGTTGCTTA[C/T]CCACACTACGAGACTGAAAGGAATG

Phenotype

MIM: 613023

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP170 PubMed Links

Gene Details

Gene

CEP170

Gene Name

centrosomal protein 170

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042404.1	527	Missense Mutation	GAT,GGT	D40G	NP_001035863.1
NM_001042405.1	527	Missense Mutation	GAT,GGT	D40G	NP_001035864.1
NM_014812.2	527	Missense Mutation	GAT,GGT	D40G	NP_055627.2
XM_006711843.3	527	Missense Mutation	GAT,GGT	D40G	XP_006711906.1
XM_011544334.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542636.1
XM_011544335.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542637.1
XM_011544336.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542638.1
XM_011544337.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542639.1
XM_011544338.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542640.1
XM_011544339.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542641.1
XM_011544340.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542642.1
XM_011544341.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542643.1
XM_011544342.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542644.1
XM_011544343.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542645.1
XM_011544344.2	527	Missense Mutation	GAT,GGT	D40G	XP_011542646.1
XM_017002932.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858421.1
XM_017002933.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858422.1
XM_017002934.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858423.1
XM_017002935.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858424.1
XM_017002936.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858425.1
XM_017002937.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858426.1
XM_017002938.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858427.1
XM_017002939.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858428.1
XM_017002940.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858429.1
XM_017002941.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858430.1
XM_017002942.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858431.1
XM_017002943.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858432.1
XM_017002944.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858433.1
XM_017002945.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858434.1
XM_017002946.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858435.1
XM_017002947.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858436.1
XM_017002948.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858437.1
XM_017002949.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858438.1
XM_017002950.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858439.1
XM_017002951.1	527	Missense Mutation	GAT,GGT	D40G	XP_016858440.1

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