Product Details

SNP ID: rs76267236
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:88864866 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCACCGGCGCACCTTGATGACCCGG[C/T]CCCGGAAGAGGCTCTGGTCCAGCTC
Phenotype: MIM: 603870 MIM: 612222 MIM: 610970
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CBFA2T3 PubMed Links

Gene Details

Gene: CBFA2T3
Gene Name: CBFA2/RUNX1 translocation partner 3

There are no transcripts associated with this gene.

Gene: GALNS
Gene Name: galactosamine (N-acetyl)-6-sulfatase

There are no transcripts associated with this gene.

Gene: PABPN1L
Gene Name: poly(A) binding protein nuclear 1 like (cytoplasmic)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080487.2	1950	Missense Mutation	GAC,GGC	D214G	NP_001073956.2
NM_001294328.1	1950	Intron			NP_001281257.1
XM_017023230.1	1950	Missense Mutation	GAC,GGC	D214G	XP_016878719.1

Gene: TRAPPC2L
Gene Name: trafficking protein particle complex 2-like

There are no transcripts associated with this gene.

View Full Product Details