Product Details

SNP ID

rs9606877

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:31768835 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGGTCAGCACATGTGCCTATATC[A/C]CCCAGAAGGTGGAGTTTGCTGGCAT

Phenotype

MIM: 614191

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DEPDC5 PubMed Links

Gene Details

Gene

DEPDC5

Gene Name

DEP domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007188.2	491	Missense Mutation	ACC,CCC	T129P	NP_001007189.1
NM_001136029.2	491	Missense Mutation	ACC,CCC	T129P	NP_001129501.1
NM_001242896.1	491	Missense Mutation	ACC,CCC	T129P	NP_001229825.1
NM_001242897.1	491	Missense Mutation	ACC,CCC	T129P	NP_001229826.1
NM_014662.4	491	Missense Mutation	ACC,CCC	T129P	NP_055477.1
XM_005261862.1	491	Missense Mutation	ACC,CCC	T129P	XP_005261919.1
XM_011530557.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528859.1
XM_011530558.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528860.1
XM_011530559.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528861.1
XM_011530560.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528862.1
XM_011530561.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528863.1
XM_011530562.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528864.1
XM_011530563.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528865.1
XM_011530565.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528867.1
XM_011530568.2	491	Missense Mutation	ACC,CCC	T129P	XP_011528870.1
XM_011530569.2	491	Intron			XP_011528871.1
XM_017029109.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884598.1
XM_017029110.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884599.1
XM_017029111.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884600.1
XM_017029112.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884601.1
XM_017029113.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884602.1
XM_017029114.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884603.1
XM_017029115.1	491	Missense Mutation	ACC,CCC	T129P	XP_016884604.1

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