Product Details

SNP ID
rs148615988
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:36058805 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCACTCGAGAAGGTGCTTGGCA[C/T]CACAGCCCAGAACAGCAGTGGCCTA
Phenotype
MIM: 612536 MIM: 613583
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
THAP8 PubMed Links

Gene Details

Gene
THAP8
Gene Name
THAP domain containing 8
There are no transcripts associated with this gene.

Gene
WDR62
Gene Name
WD repeat domain 62
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083961.1 294 Missense Mutation ACC,ATC T68I NP_001077430.1
NM_173636.4 294 Missense Mutation ACC,ATC T68I NP_775907.4
XM_005258809.2 294 Missense Mutation ACC,ATC T68I XP_005258866.1
XM_011526837.1 294 Missense Mutation ACC,ATC T68I XP_011525139.1
XM_011526838.1 294 Missense Mutation ACC,ATC T68I XP_011525140.1
XM_011526839.1 294 Missense Mutation ACC,ATC T68I XP_011525141.1
XM_011526840.2 294 Intron XP_011525142.1
XM_011526841.2 294 Intron XP_011525143.1
XM_011526842.1 294 Intron XP_011525144.1
XM_011526843.1 294 Intron XP_011525145.1
XM_011526844.2 294 Intron XP_011525146.1
XM_017026665.1 294 Missense Mutation ACC,ATC T68I XP_016882154.1

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