Product Details

SNP ID

rs191517595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2236875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCGCTGGAAGCCGCCGGGACCG[A/C]CGCGCTTCGCATCGGAGCCTTCAAC

Phenotype

MIM: 602622 MIM: 603022 MIM: 600305

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNASE1L2 PubMed Links

Gene Details

Gene

DNASE1L2

Gene Name

deoxyribonuclease I-like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301680.1	169	Missense Mutation	GAC,GCC	D20A	NP_001288609.1
NM_001374.2	169	Missense Mutation	GAC,GCC	D20A	NP_001365.1
XM_011522399.1	169	Missense Mutation	GAC,GCC	D111A	XP_011520701.1

Gene

E4F1

Gene Name

E4F transcription factor 1

There are no transcripts associated with this gene.

Gene

ECI1

Gene Name

enoyl-CoA delta isomerase 1

There are no transcripts associated with this gene.

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