RGD:10049650 Rat Genome Database

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Variant: RGD:10049650 -  Homo sapiens

RGD ID: 10049650
RS ID: rs794726977
ClinVar ID: CV190740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 30,768,330
GRCh38 16 30,757,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.30757009C>T
NC_000016.9:g.30768330C>T
NP_000285.1:p.Pro378Leu
NM_000294.3:c.1133C>T
More... 		11/24/2014 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PHKG2
Accession:NM_000294
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRLPGPFPIMGPEEEGDSAAITEDE
AVLVLG*

Gene Symbol:PHKG2
Accession:NM_001172432
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000173672 CLINVAR
dbSNP (RS) rs794726977 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PHKG2 CLINVAR
OMIM 172471 CLINVAR