Product Details

SNP ID

rs146351596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67987738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGAACTTGTCCTCCAAGGGGCTT[C/T]GCCATTTGTTTTCTTCCTGTACCTA

Phenotype

MIM: 609925 MIM: 609926

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DPEP2 PubMed Links

Gene Details

Gene

DPEP2

Gene Name

dipeptidase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324159.1	556	Missense Mutation	CAA,CGA	Q252R	NP_001311088.1
NM_022355.3	556	Missense Mutation	CAA,CGA	Q410R	NP_071750.1
XM_005256090.4	556	Missense Mutation	AAA,GAA	K365E	XP_005256147.2
XM_011523266.1	556	Missense Mutation	CAA,CGA	Q423R	XP_011521568.1
XM_011523268.2	556	Missense Mutation	CAA,CGA	Q415R	XP_011521570.1
XM_011523271.2	556	Silent Mutation	GCA,GCG	A336A	XP_011521573.1
XM_011523272.2	556	Missense Mutation	CAA,CGA	Q265R	XP_011521574.1
XM_011523273.2	556	Missense Mutation	CAA,CGA	Q265R	XP_011521575.1
XM_011523274.2	556	Missense Mutation	CAA,CGA	Q215R	XP_011521576.1
XM_017023541.1	556	Missense Mutation	CAA,CGA	Q357R	XP_016879030.1
XM_017023542.1	556	Missense Mutation	CAA,CGA	Q333R	XP_016879031.1
XM_017023543.1	556	Missense Mutation	CAA,CGA	Q307R	XP_016879032.1
XM_017023544.1	556	Missense Mutation	CAA,CGA	Q300R	XP_016879033.1
XM_017023545.1	556	Missense Mutation	CAA,CGA	Q265R	XP_016879034.1
XM_017023546.1	556	Missense Mutation	CAA,CGA	Q174R	XP_016879035.1
XM_017023547.1	556	Missense Mutation	CAA,CGA	Q174R	XP_016879036.1

Gene

DPEP3

Gene Name

dipeptidase 3

There are no transcripts associated with this gene.

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