Product Details

SNP ID

rs138574813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2243147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCCCACCTGCAGGGCCTCCGCC[A/G]GCGGGAAGAGCAGCCCCAGCTGCAG

Phenotype

MIM: 602622 MIM: 603022 MIM: 600305 MIM: 606447

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNASE1L2 PubMed Links

Gene Details

Gene

DNASE1L2

Gene Name

deoxyribonuclease I-like 2

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178029.1	676	Missense Mutation	CCG,CTG	P197L	NP_001171500.1
NM_001919.3	676	Missense Mutation	CCG,CTG	P214L	NP_001910.2

Gene

RNPS1

Gene Name

RNA binding protein with serine rich domain 1

There are no transcripts associated with this gene.

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