Product Details

SNP ID
rs74986527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33320042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTCTTCCTCTTCGTCCTCCTC[A/T]TCATCATCCTCCTGACCCTCCTGCA
Phenotype
MIM: 603186 MIM: 601962 MIM: 611439
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DAXX PubMed Links

Gene Details

Gene
DAXX
Gene Name
death domain associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001141969.1 488 Missense Mutation GAA,GAT E478D NP_001135441.1
NM_001141970.1 488 Missense Mutation GAA,GAT E490D NP_001135442.1
NM_001254717.1 488 Missense Mutation GAA,GAT E403D NP_001241646.1
NM_001350.4 488 Missense Mutation GAA,GAT E478D NP_001341.1
XM_005248860.3 488 Missense Mutation GAA,GAT E110D XP_005248917.1
Gene
TAPBP
Gene Name
TAP binding protein (tapasin)
There are no transcripts associated with this gene.

Gene
ZBTB22
Gene Name
zinc finger and BTB domain containing 22
There are no transcripts associated with this gene.

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