RGD:15119676 Rat Genome Database

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Variant: RGD:15119676 -  Homo sapiens

RGD ID: 15119676
RS ID: rs552772556
ClinVar ID: CV746943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLX2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 172,966,280
GRCh38 2 172,101,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004405.4:c.495G>T
NG_009219.1:g.6199G>T
NC_000002.12:g.172101552C>A
NC_000002.11:g.172966280C>A
More... 		05/03/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DLX2
Accession:NM_004405
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGVFDSLVADMHSTQIAASSTYHQHQQPPSGGGAGPGGNSSSSSSLHKPQESPTLPVSTATDSSYYTNQQHPAGGGGGG
GSPYAHMGSYQYQASGLNNVPYSAKSSYDLGYTAAYTSYAPYGTSSSPANNEPEKEDLEPEIRIVNGKPKKVRKPRTIYS
SFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNRRSKFKKMWKSGEIPSEQHPGASASPPCASPPVSAPAS
WDFGVPQRMAGGGGPGSGGSGAGSSGSSPSSAASAFLGNYPWYHQTSGSASHLQATAPLLHPTQTPQPHHHHHHHGGGGA
PVSAGTIF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000918181 CLINVAR
dbSNP (RS) rs552772556 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DLX2 CLINVAR
OMIM 126255 CLINVAR