Product Details

SNP ID

rs143225615

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1648359 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCAGCGTCCTCACCGCTGGAAG[G/T]AGGCCAGTTCCTCCTTGAGCAGGAA

Phenotype

MIM: 607300 MIM: 607848 MIM: 607873

Polymorphism

G/T, Transversion 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	1106	Missense Mutation	TAC,TCC	Y271S	NP_113618.2
XM_005256811.1	1106	Missense Mutation	TAC,TCC	Y271S	XP_005256868.1
XM_017025195.1	1106	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