Product Details

SNP ID

rs143176503

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7933291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCTCATGAAGGGTTAGACGGCT[G/T]CGCCCAAGAATTGAGTCGAAGCTTG

Phenotype

MIM: 611425 MIM: 604111 MIM: 610969

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CNTROB PubMed Links

Gene Details

Gene

CNTROB

Gene Name

centrobin, centriole duplication and spindle assembly protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037144.5	1043	Missense Mutation	TGC,TTC	C71F	NP_001032221.1
NM_053051.3	1043	Missense Mutation	TGC,TTC	C71F	NP_444279.2
XM_005256437.2	1043	Missense Mutation	TGC,TTC	C71F	XP_005256494.1
XM_005256438.2	1043	Missense Mutation	TGC,TTC	C71F	XP_005256495.1
XM_005256439.2	1043	Missense Mutation	TGC,TTC	C71F	XP_005256496.1
XM_017024128.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879617.1
XM_017024129.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879618.1
XM_017024130.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879619.1
XM_017024131.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879620.1
XM_017024132.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879621.1
XM_017024133.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879622.1
XM_017024134.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879623.1
XM_017024135.1	1043	UTR 5			XP_016879624.1
XM_017024136.1	1043	UTR 5			XP_016879625.1
XM_017024137.1	1043	UTR 5			XP_016879626.1
XM_017024138.1	1043	Intron			XP_016879627.1
XM_017024139.1	1043	UTR 5			XP_016879628.1
XM_017024140.1	1043	UTR 5			XP_016879629.1
XM_017024141.1	1043	Missense Mutation	TGC,TTC	C71F	XP_016879630.1
XM_017024142.1	1043	UTR 5			XP_016879631.1
XM_017024143.1	1043	UTR 5			XP_016879632.1
XM_017024144.1	1043	UTR 5			XP_016879633.1

Gene

KCNAB3

Gene Name

potassium voltage-gated channel subfamily A regulatory beta subunit 3

There are no transcripts associated with this gene.

Gene

TRAPPC1

Gene Name

trafficking protein particle complex 1

There are no transcripts associated with this gene.

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