Product Details

SNP ID

rs35198305

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:151404940 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGATCTGGGTCGTGGAGTGGAAGA[A/C]TCAGAATGTTCCCCACTCAGCTTCA

Phenotype

MIM: 614787 MIM: 602177

Polymorphism

A/C, Transversion 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	4969	Missense Mutation	GAG,GAT	E1356D	NP_001181866.1
NM_001194938.1	4969	Missense Mutation	GAG,GAT	E1303D	NP_001181867.1
NM_015100.3	4969	Missense Mutation	GAG,GAT	E1365D	NP_055915.2
NM_145796.3	4969	Missense Mutation	GAG,GAT	E1270D	NP_665739.3
NM_207171.2	4969	Missense Mutation	GAG,GAT	E1312D	NP_997054.1
XM_005244999.2	4969	Missense Mutation	GAG,GAT	E1365D	XP_005245056.1
XM_005245000.4	4969	Missense Mutation	GAG,GAT	E1365D	XP_005245057.1
XM_005245001.2	4969	Missense Mutation	GAG,GAT	E1365D	XP_005245058.1
XM_005245005.1	4969	Missense Mutation	GAG,GAT	E1312D	XP_005245062.1
XM_005245006.4	4969	Missense Mutation	GAG,GAT	E1312D	XP_005245063.1
XM_011509331.2	4969	Missense Mutation	GAG,GAT	E1246D	XP_011507633.1
XM_017000744.1	4969	Missense Mutation	GAG,GAT	E1372D	XP_016856233.1
XM_017000745.1	4969	Missense Mutation	GAG,GAT	E1356D	XP_016856234.1
XM_017000746.1	4969	Missense Mutation	GAG,GAT	E1356D	XP_016856235.1
XM_017000747.1	4969	Missense Mutation	GAG,GAT	E1316D	XP_016856236.1
XM_017000748.1	4969	Missense Mutation	GAG,GAT	E1312D	XP_016856237.1
XM_017000749.1	4969	Missense Mutation	GAG,GAT	E1312D	XP_016856238.1

Gene

PSMB4

Gene Name

proteasome subunit beta 4

There are no transcripts associated with this gene.

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