RGD:14703228 Rat Genome Database

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Variant: RGD:14703228 -  Homo sapiens

RGD ID: 14703228
RS ID: rs771246986
ClinVar ID: CV652688
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN2B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 13,906,248
GRCh38 12 13,753,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000834.3:c.1010+3G>A
NM_000834.5:c.1010+3G>A
NG_031854.2:g.233699G>A
NC_000012.12:g.13753314C>T
More... 		10/03/2020 intron variant benign|uncertain significance Developmental and epileptic encephalopathy, 27; Epileptic encephalopathy, early infantile, 27; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIN2B
Accession:NM_001413994
Location:EXON
Amino Acid Prediction: * to * (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKS
IITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNI
MEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSS
CYNTHEKRIYQSNMLNR*

Gene Symbol:GRIN2B
Accession:NM_001413993
Location:EXON
Amino Acid Prediction: * to * (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKS
IITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNI
MEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSS
CYNTHEKRIYQSNMLNR*

Gene Symbol:GRIN2B
Accession:NM_001413995
Location:EXON
Amino Acid Prediction: * to * (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKS
IITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNI
MEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSS
CYNTHEKRIYQSNMLNR*

Gene Symbol:GRIN2B
Accession:NM_000834
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GRIN2B
Accession:XM_005253351
Location:INTRON

Gene Symbol:GRIN2B
Accession:NM_001413992
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792799 CLINVAR
  RCV002252237 CLINVAR
dbSNP (RS) rs771246986 CLINVAR
MedGen C3151411 CLINVAR
NCBI Gene GRIN2B CLINVAR
OMIM 138252 CLINVAR
  613970 CLINVAR
  616139 CLINVAR