Product Details

SNP ID

rs147433253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42309768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGGTCCCTACTGCCTCCAAGCTC[A/G]TGGTCATAACCCAGGGCCGGCTGAG

Phenotype

MIM: 603074

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PAFAH1B3 PubMed Links

Gene Details

Gene

PAFAH1B3

Gene Name

platelet activating factor acetylhydrolase 1b catalytic subunit 3

There are no transcripts associated with this gene.

Gene

PRR19

Gene Name

proline rich 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199285.2	274	Missense Mutation	ATG,GTG	M62V	NP_954979.2
XM_005258779.4	274	Missense Mutation	ATG,GTG	M114V	XP_005258836.2
XM_005258780.3	274	Missense Mutation	ATG,GTG	M62V	XP_005258837.1
XM_006723154.3	274	Missense Mutation	ATG,GTG	M62V	XP_006723217.1
XM_011526787.1	274	Missense Mutation	ATG,GTG	M62V	XP_011525089.1
XM_011526788.1	274	Missense Mutation	ATG,GTG	M62V	XP_011525090.1
XM_011526789.2	274	Missense Mutation	ATG,GTG	M62V	XP_011525091.1
XM_011526790.2	274	Missense Mutation	ATG,GTG	M62V	XP_011525092.1

Gene

TMEM145

Gene Name

transmembrane protein 145

There are no transcripts associated with this gene.

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