Product Details

SNP ID: rs121434239
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:1650909 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCACCTCGTGGTAGAACTCTTTGG[T/G]GTTCGCCAGCTGTAGCTCATATTTC
Phenotype: MIM: 607300 MIM: 607848 MIM: 607873
Polymorphism: T/G, Transversion 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	7015	Missense Mutation	ACC,CCC	T2301P	NP_006436.3

Gene: RILP
Gene Name: Rab interacting lysosomal protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031430.2	7015	Intron			NP_113618.2
XM_005256811.1	7015	Intron			XP_005256868.1
XM_017025195.1	7015	Intron			XP_016880684.1

Gene: SCARF1
Gene Name: scavenger receptor class F member 1

There are no transcripts associated with this gene.

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