RGD:12912883 Rat Genome Database

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Variant: RGD:12912883 -  Homo sapiens

RGD ID: 12912883
RS ID: rs144586521
ClinVar ID: CV422521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANOS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 8,504,818
GRCh38 X 8,536,777
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.8504818C>A
NP_000207.2:p.Glu539Ter
NG_007088.1:g.200410G>T
NC_000023.11:g.8536777C>A
More... 		11/10/2015 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:ANOS1
Accession:NM_000216
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 539
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLG*AGHVLSKVLAKPENLSASFIV
QDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPG
GEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY*

Gene Symbol:ANOS1
Accession:XM_005274501
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493134 CLINVAR
dbSNP (RS) rs144586521 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ANOS1 CLINVAR
OMIM 300836 CLINVAR