RGD:405680785 Rat Genome Database

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Variant: RGD:405680785 -  Homo sapiens

RGD ID: 405680785
ClinVar ID: CV3285278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDP1  NEDD8-MDP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 24,683,315
GRCh38 14 24,214,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_051059.1:g.23277C>T
NC_000014.9:g.24214109G>A
NC_000014.8:g.24683315G>A
NM_138476.3:c.446C>T
More... 		04/27/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MDP1
Accession:NM_001199822
Location:3UTRS;EXON

Gene Symbol:MDP1
Accession:NM_138476
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERRNIVDVSKLGVTCIHIQNGMNLQNLSQGLETFAKA
QTGPLRSSLEESPFEA*

Gene Symbol:MDP1
Accession:NM_001199821
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRCYLHSHPEWNESSKSKSRVRDICEGPNWAFEVQP*

Gene Symbol:NEDD8-MDP1
Accession:NM_001199823
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIKVKTLTGKEIEIDIEPTDKVERIKERVEEKEGIPPQQQRLIYSGKQIDGTVRDRRGQDVRLYPEVPEVLKRLQSLGV
PGAAASRTSEIEGANQLLELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERRNIVDVSKLGVTCIHIQN
GMNLQNLSQGLETFAKAQTGPLRSSLEESPFEA*

Gene Symbol:NEDD8-MDP1
Accession:NR_137631
Location:INTRON;NON-CODING

Gene Symbol:NEDD8-MDP1
Accession:NR_137630
Location:INTRON;NON-CODING

Gene Symbol:NEDD8-MDP1
Accession:NR_137632
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004421597 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MDP1 CLINVAR
  NEDD8-MDP1 CLINVAR