Product Details

SNP ID

rs183075818

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:36400459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGAAACTGAAGCCTCACCTCTC[A/G]AACCATCCTATGATCAATGTTGTCC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PXT1 PubMed Links

Gene Details

Gene

PXT1

Gene Name

peroxisomal, testis specific 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152990.3	779	Nonsense Mutation	CGA,TGA	R99*	NP_694535.2
XM_011514400.2	779	Nonsense Mutation	CGA,TGA	R104*	XP_011512702.1

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