Product Details

SNP ID

rs3750533

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:113297941 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGTGGGGCTCCAGGCGGAGCAGGG[C/T]GAGCATGGCAGTGTCCGTGGGCAAG

Phenotype

MIM: 607795

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPF4 PubMed Links

Gene Details

Gene

PRPF4

Gene Name

pre-mRNA processing factor 4

There are no transcripts associated with this gene.

Gene

RNF183

Gene Name

ring finger protein 183

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145051.3	1955	Missense Mutation			NP_659488.2
XM_006716952.2	1955	Missense Mutation			XP_006717015.1
XM_011518218.1	1955	Missense Mutation			XP_011516520.1
XM_011518219.1	1955	Missense Mutation			XP_011516521.1
XM_011518220.1	1955	Missense Mutation			XP_011516522.1
XM_017014268.1	1955	Missense Mutation			XP_016869757.1

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