Product Details

SNP ID

rs7229870

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12994469 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGACAGGCCTCATAGAGTTTTCAG[A/G]AGAGGCATGGCACTTGATTCATAGT

Phenotype

MIM: 616426 MIM: 609263

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP192 PubMed Links

Gene Details

Gene

CEP192

Gene Name

centrosomal protein 192

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032142.3		Intron			NP_115518.3
XM_005258107.3		Intron			XP_005258164.1
XM_005258109.3		Intron			XP_005258166.1
XM_005258110.1		Intron			XP_005258167.1
XM_006722326.3		Intron			XP_006722389.1
XM_006722327.3		Intron			XP_006722390.1
XM_006722330.3		Intron			XP_006722393.1
XM_011525673.2		Intron			XP_011523975.1
XM_011525675.2		Intron			XP_011523977.1
XM_017025803.1		Intron			XP_016881292.1
XM_017025804.1		Intron			XP_016881293.1
XM_017025805.1		Intron			XP_016881294.1
XM_017025806.1		Intron			XP_016881295.1
XM_017025807.1		Intron			XP_016881296.1

Gene

SEH1L

Gene Name

SEH1 like nucleoporin

There are no transcripts associated with this gene.

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