rs139995491 Rat Genome Database

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Variant: rs139995491 -  Homo sapiens

RGD ID: 150540658
RS ID: rs139995491
ClinVar ID: CV1296048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD13  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 176,957,878
GRCh38 2 176,093,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.176957878C>G
NG_008137.1:g.5347C>G
NM_000523.3:c.260C>G
NP_000514.2:p.Ser87Trp
More... 		02/21/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HOXD13
Accession:NM_000523
Location:EXON
Amino Acid Prediction: S to W (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAAASGFAYPGTS
ERTGSSWSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLG
GFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGYQSWTLANGWNS
QVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQV
TIWFQNRRVKDKKIVSKLKDTVS*

Gene Symbol:HOXD13
Accession:XM_011511069
Location:INTRON

Gene Symbol:HOXD13
Accession:XM_011511068
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001760517 CLINVAR
  RCV002540303 CLINVAR
dbSNP (RS) rs139995491 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene HOXD13 CLINVAR
OMIM 142989 CLINVAR