RGD:11619848 Rat Genome Database

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Variant: RGD:11619848 -  Homo sapiens

RGD ID: 11619848
RS ID: rs138416154
ClinVar ID: CV342749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 30,762,922
GRCh38 16 30,751,601
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.324C>T
NC_000016.10:g.30751601C>T
NC_000016.9:g.30762922C>T
NP_000285.1:p.Asp108=
More... 		12/31/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; GSD IXc; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHKG2
Accession:NM_001172432
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWIRKQWIGKLMACV*

Gene Symbol:PHKG2
Accession:NM_000294
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDE
AVLVLG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000432243 CLINVAR
  RCV000647371 CLINVAR
  RCV001089053 CLINVAR
  RCV003950086 CLINVAR
dbSNP (RS) rs138416154 CLINVAR
MedGen C2751643 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PHKG2 CLINVAR
OMIM 172471 CLINVAR
  613027 CLINVAR