Product Details

SNP ID

rs149669773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:184695319 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTCAAGGAGCTTCTCTAACTGA[C/T]GGTTGATATTTCGCAGATGGCTTTC

Phenotype

MIM: 611511 MIM: 615421

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CENPU PubMed Links

Gene Details

Gene

CENPU

Gene Name

centromere protein U

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024629.3	1296	Missense Mutation	CAT,CGT	H409R	NP_078905.2
XM_005263218.4	1296	Missense Mutation	CAT,CGT	H439R	XP_005263275.2

Gene

PRIMPOL

Gene Name

primase and DNA directed polymerase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300767.1	1296	Intron			NP_001287696.1
NM_001300768.1	1296	Intron			NP_001287697.1
NM_152683.3	1296	Intron			NP_689896.1
XM_011531719.1	1296	Intron			XP_011530021.1
XM_011531720.1	1296	Intron			XP_011530022.1
XM_011531721.2	1296	Intron			XP_011530023.1
XM_011531723.1	1296	Intron			XP_011530025.1
XM_011531724.2	1296	Intron			XP_011530026.1
XM_011531725.1	1296	Intron			XP_011530027.1
XM_011531726.2	1296	Intron			XP_011530028.1
XM_011531729.1	1296	Intron			XP_011530031.1
XM_011531730.2	1296	Intron			XP_011530032.1
XM_017007864.1	1296	Intron			XP_016863353.1
XM_017007865.1	1296	Intron			XP_016863354.1
XM_017007866.1	1296	Intron			XP_016863355.1
XM_017007867.1	1296	Intron			XP_016863356.1
XM_017007868.1	1296	Intron			XP_016863357.1
XM_017007869.1	1296	Intron			XP_016863358.1
XM_017007870.1	1296	Intron			XP_016863359.1
XM_017007871.1	1296	Intron			XP_016863360.1
XM_017007872.1	1296	Intron			XP_016863361.1
XM_017007873.1	1296	Intron			XP_016863362.1
XM_017007874.1	1296	Intron			XP_016863363.1
XM_017007875.1	1296	Intron			XP_016863364.1

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