Product Details

SNP ID

rs112348773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12881105 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACTTGTACTGCAGCCCTCTCTGC[C/G]CCGCCTCCCCGGACCCTCTAAGAGC

Phenotype

MIM: 126350 MIM: 600599 MIM: 612256

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DNASE2 PubMed Links

Gene Details

Gene

DNASE2

Gene Name

deoxyribonuclease II, lysosomal

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001375.2	280	Missense Mutation	GCG,GGG	A45G	NP_001366.1

Gene

KLF1

Gene Name

Kruppel like factor 1

There are no transcripts associated with this gene.

Gene

MAST1

Gene Name

microtubule associated serine/threonine kinase 1

There are no transcripts associated with this gene.

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