Product Details

SNP ID

rs2741581

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45416327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCCGCACGCGCTGGGATTCGGA[A/G]CTTCAGCGGGAAGGAGGTGAGGGCG

Phenotype

MIM: 611453 MIM: 610272

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DBNDD2 PubMed Links

Gene Details

Gene

DBNDD2

Gene Name

dysbindin domain containing 2

There are no transcripts associated with this gene.

Gene

MIR6812

Gene Name

microRNA 6812

There are no transcripts associated with this gene.

Gene

PIGT

Gene Name

phosphatidylinositol glycan anchor biosynthesis class T

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184728.2	183	Silent Mutation	GAA,GAG	E57E	NP_001171657.1
NM_001184729.2	183	Silent Mutation	GAA,GAG	E57E	NP_001171658.1
NM_001184730.2	183	Silent Mutation	GAA,GAG	E57E	NP_001171659.1
NM_015937.5	183	Silent Mutation	GAA,GAG	E57E	NP_057021.2
XM_005260430.2	183	Silent Mutation	GAA,GAG	E57E	XP_005260487.1
XM_005260432.2	183	UTR 5			XP_005260489.1

Gene

SYS1-DBNDD2

Gene Name

SYS1-DBNDD2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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