Product Details

SNP ID

rs144813673

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143983241 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGCCAGAAGTGCCACCAAGTGG[C/T]GGGCAGCACGGGCAGGGTGGGCCCC

Phenotype

MIM: 138251 MIM: 609564 MIM: 601282

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GRINA PubMed Links

Gene Details

Gene

GRINA

Gene Name

glutamate ionotropic receptor NMDA type subunit associated protein 1

There are no transcripts associated with this gene.

Gene

PARP10

Gene Name

poly(ADP-ribose) polymerase family member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317895.1	2460	Missense Mutation	CAC,CGC	H795R	NP_001304824.1
NM_032789.4	2460	Missense Mutation	CAC,CGC	H783R	NP_116178.2
XM_011517336.2	2460	Missense Mutation	CAC,CGC	H774R	XP_011515638.1

Gene

PLEC

Gene Name

plectin

There are no transcripts associated with this gene.

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