Product Details

SNP ID
rs150463674
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33320032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACCTGCTGCTGCTTCTTCCTCTT[C/T]GTCCTCCTCTTCATCATCCTCCTGA
Phenotype
MIM: 603186 MIM: 601962 MIM: 611439
Polymorphism
C/T, Transition 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_001141969.1 498 Missense Mutation AAA,GAA K482E NP_001135441.1
NM_001141970.1 498 Missense Mutation AAA,GAA K494E NP_001135442.1
NM_001254717.1 498 Missense Mutation AAA,GAA K407E NP_001241646.1
NM_001350.4 498 Missense Mutation AAA,GAA K482E NP_001341.1
XM_005248860.3 498 Missense Mutation AAA,GAA K114E 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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