RGD:15139294 Rat Genome Database

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Variant: RGD:15139294 -  Homo sapiens

RGD ID: 15139294
RS ID: rs751344521
ClinVar ID: CV732260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARV1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 231,125,921
GRCh38 1 230,990,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346992.2:c.360A>G
NM_022786.3:c.360A>G
NG_052022.1:g.16127A>G
NC_000001.11:g.230990175A>G
More... 		12/20/2017 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ARV1
Accession:NM_001346992
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALGWSAVAQSQLT
AALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVC
LKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NM_022786
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFT
FLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:XM_024449202
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALDRVSLCCLGWS
AVAQSQLTAALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIW
EHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NR_144538
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:XR_002957381
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:XR_007063028
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899123 CLINVAR
dbSNP (RS) rs751344521 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ARV1 CLINVAR
OMIM 611647 CLINVAR