RGD:13787366 Rat Genome Database

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Variant: RGD:13787366 -  Homo sapiens

RGD ID: 13787366
RS ID: rs61746890
ClinVar ID: CV549835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 2,933,066
GRCh38 X 3,015,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.3015025G>C
NC_000023.10:g.2933066G>C
NP_001011719.1:p.Pro132=
NM_001011719.2:c.396G>C
More... 		09/27/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ARSH
Accession:NM_001011719
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRNARPNIVLLMADDLGVGDLCCYGNNSVSTPNIDRLASEGVRLTQHLAAASMCTPSRAAFLTGRYPIRSGMVSAYNLN
RAFTWLGGSGGLPTNETTFAKLLQHRGYRTGLIGKWHLGLSCASRNDHCYHPLNHGFHYFYGVPFGLLSDCQASKTPELH
RWLRIKLWISTVALALVPFLLLIPKFARWFSVPWKVIFVFALLAFLFFTSWYSSYGFTRRWNCILMRNHEIIQQPMKEEK
VASLMLKEALAFIERYKREPFLLFFSFLHVHTPLISKKKFVGRSKYGRYGDNVEEMDWMVGKILDALDQERLANHTLVYF
TSDNGGHLEPLDGAVQLGGWNGIYKGGKGMGGWEGGIRVPGIFRWPSVLEAGRVINEPTSLMDIYPTLSYIGGGILSQDR
VIDGQNLMPLLEGRASHSDHEFLFHYCGVYLHTVRWHQKDCATVWKAHYVTPKFYPEGTGACYGSGICSCSGDVTYHDPP
LLFDISRDPSEALPLNPDNEPLFDSVIKKMEAAIREHRRTLTPVPQQFSVFNTIWKPWLQPCCGTFPFCGCDKEDDILPM
AP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000675845 CLINVAR
dbSNP (RS) rs61746890 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARSH CLINVAR
OMIM 300586 CLINVAR