RGD:401741428 Rat Genome Database

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Variant: RGD:401741428 -  Homo sapiens

RGD ID: 401741428
ClinVar ID: CV2681317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD300LB  LOC107985074  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 72,519,731
GRCh38 17 74,523,592
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.74523592C>T
NC_000017.10:g.72519731C>T
NM_174892.2:c.541G>A
NP_777552.3:p.Gly144Ser
More... 		05/09/2023 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CD300LB
Accession:NM_174892
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPPALLLLSLSGCFSIQGPESVRAPEQGSLTVQCHYKQGWETYIKWWCRGVRWDTCKILIETRGSEQGEKSDRVSIKD
NQKDRTFTVTMEGLRRDDADVYWCGIERRGPDLGTQVKVIVDPEGAASTTASSPTNSNMAVFISSHKRNHYMLLVFVKVP
ILLILVTAILWLKGSQRVPEEPGEQPIYMNFSEPLTKDMAT*

Gene Symbol:CD300LB
Accession:XM_005257027
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCRRCKPELRQNFQSASGICICHWLQIRRTRSREGRAMWLPPALLLLSLSGCFSIQGPESVRAPEQGSLTVQCHYKQGWE
TYIKWWCRGVRWDTCKILIETRGSEQGEKSDRVSIKDNQKDRTFTVTMEGLRRDDADVYWCGIERRGPDLGTQVKVIVDP
EGAASTTASSPTNSNMAVFISSHKRSLANDGPENSIMAREESSSPAKIP*

Gene Symbol:LOC107985074
Accession:XR_007065902
Location:INTRON;NON-CODING

Gene Symbol:LOC107985074
Accession:XR_007065903
Location:INTRON;NON-CODING

Gene Symbol:LOC107985074
Accession:XR_007065900
Location:INTRON;NON-CODING

Gene Symbol:LOC107985074
Accession:XR_007065901
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004289441 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CD300LB CLINVAR
OMIM 610705 CLINVAR