Product Details

SNP ID

rs200730801

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:151404876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGTCTCACTTTCACCCTCAAAGA[A/G]CTGGTGAAGACTTTCAGGCTCAATT

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	5033	Missense Mutation	CTC,TTC	L1378F	NP_001181866.1
NM_001194938.1	5033	Missense Mutation	CTC,TTC	L1325F	NP_001181867.1
NM_015100.3	5033	Missense Mutation	CTC,TTC	L1387F	NP_055915.2
NM_145796.3	5033	Missense Mutation	CTC,TTC	L1292F	NP_665739.3
NM_207171.2	5033	Missense Mutation	CTC,TTC	L1334F	NP_997054.1
XM_005244999.2	5033	Missense Mutation	CTC,TTC	L1387F	XP_005245056.1
XM_005245000.4	5033	Missense Mutation	CTC,TTC	L1387F	XP_005245057.1
XM_005245001.2	5033	Missense Mutation	CTC,TTC	L1387F	XP_005245058.1
XM_005245005.1	5033	Missense Mutation	CTC,TTC	L1334F	XP_005245062.1
XM_005245006.4	5033	Missense Mutation	CTC,TTC	L1334F	XP_005245063.1
XM_011509331.2	5033	Missense Mutation	CTC,TTC	L1268F	XP_011507633.1
XM_017000744.1	5033	Missense Mutation	CTC,TTC	L1394F	XP_016856233.1
XM_017000745.1	5033	Missense Mutation	CTC,TTC	L1378F	XP_016856234.1
XM_017000746.1	5033	Missense Mutation	CTC,TTC	L1378F	XP_016856235.1
XM_017000747.1	5033	Missense Mutation	CTC,TTC	L1338F	XP_016856236.1
XM_017000748.1	5033	Missense Mutation	CTC,TTC	L1334F	XP_016856237.1
XM_017000749.1	5033	Missense Mutation	CTC,TTC	L1334F	XP_016856238.1

Gene

PSMB4

Gene Name

proteasome subunit beta 4

There are no transcripts associated with this gene.

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