RGD:12835090 Rat Genome Database

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Variant: RGD:12835090 -  Homo sapiens

RGD ID: 12835090
RS ID: rs201113602
ClinVar ID: CV377545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKG2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 30,768,030
GRCh38 16 30,756,709
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172432.2:c.921G>T
NG_016616.2:g.13411G>T
NP_001165903.1:p.Arg307=
NC_000016.10:g.30756709G>T
More... 		12/31/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity GSD IXc; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHKG2
Accession:NM_000294
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDE
AVLVLG*

Gene Symbol:PHKG2
Accession:NM_001172432
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWIRKQWIGKLMACV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904854 CLINVAR
  RCV001704314 CLINVAR
dbSNP (RS) rs201113602 CLINVAR
MedGen C2751643 CLINVAR
  C3661900 CLINVAR
NCBI Gene PHKG2 CLINVAR
OMIM 172471 CLINVAR
  613027 CLINVAR