RGD:38473788 Rat Genome Database

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Variant: RGD:38473788 -  Homo sapiens

RGD ID: 38473788
RS ID: rs969013352
ClinVar ID: CV947602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,250,714
GRCh38 11 67,483,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302960.2:c.85C>T
NM_003977.4:c.85C>T
LRG_460:g.5210C>T
NG_008969.1:g.5210C>T
More... 		08/09/2019 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDF*DGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDF*DGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302959
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23321498   PMID:26186299   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001231929 CLINVAR
dbSNP (RS) rs969013352 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR