Product Details

SNP ID

rs201946575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1646484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGGCCCCCAGACAAAGGTGTTC[A/G]TGGAGGGCAGAACAGGGCGGATCAG

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

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	1458	Silent Mutation	CAC,CAT	H388H	NP_113618.2
XM_005256811.1	1458	Silent Mutation	CAC,CAT	H360H	XP_005256868.1
XM_017025195.1	1458	UTR 3			XP_016880684.1

Gene

SCARF1

Gene Name

scavenger receptor class F member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003693.3	1458	Intron			NP_003684.2
NM_145350.2	1458	Intron			NP_663325.1
XM_017025256.1	1458	Intron			XP_016880745.1

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