Product Details

SNP ID

rs146658904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12884948 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGCGAAAAAGCACGTGGGCAGAG[C/G]TGGCAGCGGAAGGGGCGCTGCCCCG

Phenotype

MIM: 126350 MIM: 608801 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

There are no transcripts associated with this gene.

Gene

GCDH

Gene Name

glutaryl-CoA dehydrogenase

There are no transcripts associated with this gene.

Gene

KLF1

Gene Name

Kruppel like factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011527642.2	1099	Missense Mutation	CAC,CAG	H304Q	XP_011525944.1

Gene

MAST1

Gene Name

microtubule associated serine/threonine kinase 1

There are no transcripts associated with this gene.

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