Product Details

SNP ID

rs191012228

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:68476975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGGTTTTCTTAAAATCAGCATT[C/G]GTTGCTTGATTGTAGGTTTGTCACC

Phenotype

MIM: 612002

Polymorphism

C/G, Transversion 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	2615	Missense Mutation	CCA,CGA	P798R	NP_001107592.1
NM_017779.5	2615	Missense Mutation	CCA,CGA	P514R	NP_060249.2

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