Product Details

SNP ID

rs137897838

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33319043 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTGTGAATGGGGGGTTTGGGAC[A/T]GCCGGGCTGGAGAAGGGATGCAGAG

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	1171	Missense Mutation	CAG,CTG	Q706L	NP_001135441.1
NM_001141970.1	1171	Missense Mutation	CAG,CTG	Q718L	NP_001135442.1
NM_001254717.1	1171	Missense Mutation	CAG,CTG	Q631L	NP_001241646.1
NM_001350.4	1171	Missense Mutation	CAG,CTG	Q706L	NP_001341.1
XM_005248860.3	1171	Missense Mutation	CAG,CTG	Q338L	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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