RGD:15124706 Rat Genome Database

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Variant: RGD:15124706 -  Homo sapiens

RGD ID: 15124706
RS ID: rs138849178
ClinVar ID: CV735588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V1G2-DDX39B  DDX39B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 31,498,914
GRCh38 6 31,531,137
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004640.7:c.1038A>G
NC_000006.12:g.31531137T>C
NC_000006.11:g.31498914T>C
NR_037852.2:n.1003A>G
More... 		01/23/2019 non-coding transcript variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX39B
Accession:NM_080598
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENDVDNELLDYEDDEVETAAGGDGAEAPAKKDVKGSYVSIHSSGFRDFLLKPELLRAIVDCGFEHPSEVQHECIPQAI
LGMDVLCQAKSGMGKTAVFVLATLQQLEPVTGQVSVLVMCHTRELAFQISKEYERFSKYMPNVKVAVFFGGLSIKKDEEV
LKKNCPHIVVGTPGRILALARNKSLNLKHIKHFILDECDKMLEQLDMRRDVQEIFRMTPHEKQVMMFSATLSKEIRPVCR
KFMQDPMEIFVDDETKLTLHGLQQYYVKLKDNEKNRKLFDLLDVLEFNQVVIFVKSVQRCIALAQLLVEQNFPAIAIHRG
MPQEERLSRYQQFKDFQRRILVATNLFGRGMDIERVNIAFNYDMPEDSDTYLHRVARAGRFGTKGLAITFVSDENDAKIL
NDVQDRFEVNISELPDEIDISSYIEQTR*

Gene Symbol:DDX39B
Accession:NM_004640
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENDVDNELLDYEDDEVETAAGGDGAEAPAKKDVKGSYVSIHSSGFRDFLLKPELLRAIVDCGFEHPSEVQHECIPQAI
LGMDVLCQAKSGMGKTAVFVLATLQQLEPVTGQVSVLVMCHTRELAFQISKEYERFSKYMPNVKVAVFFGGLSIKKDEEV
LKKNCPHIVVGTPGRILALARNKSLNLKHIKHFILDECDKMLEQLDMRRDVQEIFRMTPHEKQVMMFSATLSKEIRPVCR
KFMQDPMEIFVDDETKLTLHGLQQYYVKLKDNEKNRKLFDLLDVLEFNQVVIFVKSVQRCIALAQLLVEQNFPAIAIHRG
MPQEERLSRYQQFKDFQRRILVATNLFGRGMDIERVNIAFNYDMPEDSDTYLHRVARAGRFGTKGLAITFVSDENDAKIL
NDVQDRFEVNISELPDEIDISSYIEQTR*

Gene Symbol:DDX39B
Accession:NR_037852
Location:EXON;NON-CODING

Gene Symbol:ATP6V1G2-DDX39B
Accession:NR_037853
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896638 CLINVAR
dbSNP (RS) rs138849178 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ATP6V1G2-DDX39B CLINVAR
  DDX39B CLINVAR
OMIM 142560 CLINVAR