RGD:15097731 Rat Genome Database

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Variant: RGD:15097731 -  Homo sapiens

RGD ID: 15097731
RS ID: rs61736412
ClinVar ID: CV726421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPSG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,272,785
GRCh38 16 1,222,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012467.4:c.378C>T
NG_012647.1:g.74545G>A
NP_036599.4:p.Ile126=
NC_000016.10:g.1222785G>A
More... 		03/29/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TPSG1
Accession:NM_012467
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALGACGLLLLLAVPGVSLRTLQPGCGRPQVSDAGGRIVGGHAAPAGAWPWQASLRLRRVHVCGGSLLSPQWVLTAAHCF
SGSLNSSDYQVHLGELEITLSPHFSTVRQIILHSSPSGQPGTSGDIALVELSVPVTLSSRILPVCLPEASDDFCPGIRCW
VTGWGYTREGEPLPPPYSLREVKVSVVDTETCRRDYPGPGGSILQPDMLCARGPGDACQDDSGGPLVCQVNGAWVQAGTV
SWGEGCGRPNRPGVYTRVPAYVNWIRRHITASGGSESGYPRLPLLAGFFLPGLFLLLVSCVLLAKCLLHPSADGTPFPAP
D*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891570 CLINVAR
dbSNP (RS) rs61736412 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPSG1 CLINVAR
OMIM 609341 CLINVAR