Product Details

SNP ID
rs141477780
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:108692856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCTACCACGAGGTGGTGGACGAG[A/G]TCTACTTTAAGGTACGAAGTGTGTA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRPF38B PubMed Links

Gene Details

Gene
PRPF38B
Gene Name
pre-mRNA processing factor 38B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018061.2 565 Missense Mutation ATC,GTC I89V NP_060531.2
XM_011541687.2 565 Missense Mutation ATC,GTC I89V XP_011539989.1
XM_017001596.1 565 Intron XP_016857085.1
XM_017001597.1 565 Intron XP_016857086.1
XM_017001598.1 565 Intron XP_016857087.1

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