RGD:405687411 Rat Genome Database

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Variant: RGD:405687411 -  Homo sapiens

RGD ID: 405687411
ClinVar ID: CV3283351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD16A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,669,074
GRCh38 6 31,701,297
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177515.2:c.158-269C>T
NM_021160.3:c.233C>T
NC_000006.12:g.31701297G>A
NC_000006.11:g.31669074G>A
More... 		12/27/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABHD16A
Accession:NM_021160
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQPRALEKHADSILALASVFWSISYYSSPFVFF
YLYRKGYLSLSKVVPFSHYAGTLLLLLAGVACLRGIGRWTNPQYRQFITILEATHRNQSSENKRQLANYNFDFRSWPVDF
HWEEPSSRKESRGGPSRRGVALLRPEPLHRGTADTLLNRVKKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQG
QARLVEECNGRRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTPLEAGYSVLGWNHPGFAGSTG
VPFPQNEANAMDVVVQFAIHRLGFQPQDIIIYAWSIGGFTATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVT
RTVRQHLNLNNAEQLCRYQGPVLLIRRTKDEIITTTVPEDIMSNRGNDLLLKLLQHRYPRVMAEEGLRVVRQWLEASSQL
EEASIYSRWEVEEDWCLSVLRSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFEATHCTPLPAQNFQMPWHL*

Gene Symbol:ABHD16A
Accession:NR_033488
Location:EXON;NON-CODING

Gene Symbol:ABHD16A
Accession:NM_001177515
Location:INTRON

Gene Symbol:ABHD16A
Accession:NR_033489
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004422994 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ABHD16A CLINVAR
OMIM 142620 CLINVAR