Product Details

SNP ID

rs148054537

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32149251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATCCCAGTAGTTCTCGTGGTGCT[A/G]CGCGGCGATGATGATGACTACGGTG

Phenotype

MIM: 603298

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC100507547 PubMed Links

Gene Details

Gene

LOC100507547

Gene Name

uncharacterized LOC100507547

There are no transcripts associated with this gene.

Gene

PPT2

Gene Name

palmitoyl-protein thioesterase 2

There are no transcripts associated with this gene.

Gene

PPT2-EGFL8

Gene Name

PPT2-EGFL8 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

PRRT1

Gene Name

proline rich transmembrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030651.3	1008	Nonsense Mutation	CAG,TAG	Q298*	NP_085154.3

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