Product Details

SNP ID

rs2293067

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1646812 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTAGAGCCAAGCACAGCAGGGTGA[C/T]GGGCAGAGAAGCGGGAAAGGGGATC

Phenotype

MIM: 607300 MIM: 607848 MIM: 607873

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPF8 PubMed Links

Gene Details

Gene

PRPF8

Gene Name

pre-mRNA processing factor 8

There are no transcripts associated with this gene.

Gene

RILP

Gene Name

Rab interacting lysosomal protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031430.2		Intron			NP_113618.2
XM_005256811.1		Intron			XP_005256868.1
XM_017025195.1		Intron			XP_016880684.1

Gene

SCARF1

Gene Name

scavenger receptor class F member 1

There are no transcripts associated with this gene.

View Full Product Details