Product Details

SNP ID

rs143311715

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:68477944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTATGAGTAAGTTGGCAAAGGA[A/G]CAAATAGTCCATCTCCAGGATTTTC

Phenotype

MIM: 612002

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DEPDC1 PubMed Links

Gene Details

Gene

DEPDC1

Gene Name

DEP domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114120.2	2363	Missense Mutation	GCT,GTT	A714V	NP_001107592.1
NM_017779.5	2363	Missense Mutation	GCT,GTT	A430V	NP_060249.2

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