Product Details

SNP ID

rs199553040

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1651223 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAAGGCAGGTAGCCCTTGGGGTT[A/G]TTGCCCTTGTCTGTGTTCTGGCGGC

Phenotype

MIM: 607300 MIM: 607848 MIM: 607873

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRPF8 PubMed Links

Gene Details

Gene

PRPF8

Gene Name

pre-mRNA processing factor 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006445.3	6852	Silent Mutation	AAC,AAT	N2246N	NP_006436.3

Gene

RILP

Gene Name

Rab interacting lysosomal protein

There are no transcripts associated with this gene.

Gene

SCARF1

Gene Name

scavenger receptor class F member 1

There are no transcripts associated with this gene.

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