Product Details

SNP ID

rs1049274

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:28201322 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTCTTCTCTTTCTTCCCCTTCG[T/G]ATTGGCTTGGAAGTTTCGCCAGCTG

Phenotype

MIM: 173393

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

DNAJC8 PubMed Links

Gene Details

Gene

DNAJC8

Gene Name

DnaJ heat shock protein family (Hsp40) member C8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014280.2	721	Missense Mutation	ACG,CCG	T230P	NP_055095.2

Gene

PTAFR

Gene Name

platelet activating factor receptor

There are no transcripts associated with this gene.

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