Product Details

SNP ID

rs201333468

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:151405389 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTGCTGCGCTGGCAAGCTGTGT[A/G]CTTCTGCCACACTCGAGTTGACCAC

Phenotype

MIM: 614787 MIM: 602177

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POGZ PubMed Links

Gene Details

Gene

POGZ

Gene Name

pogo transposable element with ZNF domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001194937.1	4520	Missense Mutation	CAC,TAC	H1207Y	NP_001181866.1
NM_001194938.1	4520	Missense Mutation	CAC,TAC	H1154Y	NP_001181867.1
NM_015100.3	4520	Missense Mutation	CAC,TAC	H1216Y	NP_055915.2
NM_145796.3	4520	Missense Mutation	CAC,TAC	H1121Y	NP_665739.3
NM_207171.2	4520	Missense Mutation	CAC,TAC	H1163Y	NP_997054.1
XM_005244999.2	4520	Missense Mutation	CAC,TAC	H1216Y	XP_005245056.1
XM_005245000.4	4520	Missense Mutation	CAC,TAC	H1216Y	XP_005245057.1
XM_005245001.2	4520	Missense Mutation	CAC,TAC	H1216Y	XP_005245058.1
XM_005245005.1	4520	Missense Mutation	CAC,TAC	H1163Y	XP_005245062.1
XM_005245006.4	4520	Missense Mutation	CAC,TAC	H1163Y	XP_005245063.1
XM_011509331.2	4520	Missense Mutation	CAC,TAC	H1097Y	XP_011507633.1
XM_017000744.1	4520	Missense Mutation	CAC,TAC	H1223Y	XP_016856233.1
XM_017000745.1	4520	Missense Mutation	CAC,TAC	H1207Y	XP_016856234.1
XM_017000746.1	4520	Missense Mutation	CAC,TAC	H1207Y	XP_016856235.1
XM_017000747.1	4520	Missense Mutation	CAC,TAC	H1167Y	XP_016856236.1
XM_017000748.1	4520	Missense Mutation	CAC,TAC	H1163Y	XP_016856237.1
XM_017000749.1	4520	Missense Mutation	CAC,TAC	H1163Y	XP_016856238.1

Gene

PSMB4

Gene Name

proteasome subunit beta 4

There are no transcripts associated with this gene.

View Full Product Details