rs750317966 Rat Genome Database

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Variant: rs750317966 -  Homo sapiens

RGD ID: 126754210
RS ID: rs750317966
ClinVar ID: CV1010348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ8  LOC105369689  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 21,919,331
GRCh38 12 21,766,397
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004982.4:c.601G>A
NG_041794.1:g.13425G>A
NC_000012.12:g.21766397C>T
NP_004973.1:p.Val201Ile
More... 		03/19/2024 missense variant uncertain significance KCNJ8-related condition; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ8
Accession:NM_004982
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSF
LCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLI
LQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAIRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEV
VPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQW
GHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRR
NNSSLMVPKVQFMTPEGNQNTSES*

Gene Symbol:LOC105369689
Accession:XR_007063241
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001327454 CLINVAR
  RCV004758159 CLINVAR
dbSNP (RS) rs750317966 CLINVAR
MedGen C1142166 CLINVAR
NCBI Gene KCNJ8 CLINVAR
OMIM 600935 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR