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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