Product Details

SNP ID

rs147691445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7931787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTGCCATTCGCTGTAGTGCAGAC[A/C]CACTCCATTCCGGTCAAACAGGTAC

Phenotype

MIM: 611425 MIM: 604111 MIM: 610969

Polymorphism

A/C, 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	103	Intron			NP_001032221.1
NM_053051.3	103	Intron			NP_444279.2
XM_005256437.2	103	Intron			XP_005256494.1
XM_005256438.2	103	Intron			XP_005256495.1
XM_005256439.2	103	Intron			XP_005256496.1
XM_017024128.1	103	Intron			XP_016879617.1
XM_017024129.1	103	Intron			XP_016879618.1
XM_017024130.1	103	Intron			XP_016879619.1
XM_017024131.1	103	Intron			XP_016879620.1
XM_017024132.1	103	Intron			XP_016879621.1
XM_017024133.1	103	Intron			XP_016879622.1
XM_017024134.1	103	Intron			XP_016879623.1
XM_017024135.1	103	Intron			XP_016879624.1
XM_017024136.1	103	Intron			XP_016879625.1
XM_017024137.1	103	Intron			XP_016879626.1
XM_017024138.1	103	Intron			XP_016879627.1
XM_017024139.1	103	Intron			XP_016879628.1
XM_017024140.1	103	Intron			XP_016879629.1
XM_017024141.1	103	Intron			XP_016879630.1
XM_017024142.1	103	Intron			XP_016879631.1
XM_017024143.1	103	Intron			XP_016879632.1
XM_017024144.1	103	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166621.1	103	Missense Mutation			NP_001160093.1
NM_021210.4	103	Missense Mutation			NP_067033.1

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