Product Details

SNP ID: rs1109497
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:47018454 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TTCATCAGAGAGCACTTTGAACAAA[G/T]TCTACCCATCACTAAAATTCAGTGA
Phenotype: MIM: 614169 MIM: 612778
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: NBEAL2 PubMed Links

Gene Details

Gene: NBEAL2
Gene Name: neurobeachin like 2

There are no transcripts associated with this gene.

Gene: NRADDP
Gene Name: neurotrophin receptor associated death domain, pseudogene

There are no transcripts associated with this gene.

Gene: SETD2
Gene Name: SET domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014159.6		Intron			NP_054878.5
XM_011533631.2		Intron			XP_011531933.1
XM_011533632.2		Intron			XP_011531934.1
XM_011533633.2		Intron			XP_011531935.1
XM_011533634.1		Intron			XP_011531936.1
XM_017006270.1		Intron			XP_016861759.1

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