RGD:126773847 Rat Genome Database

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Variant: RGD:126773847 -  Homo sapiens

RGD ID: 126773847
RS ID: rs901955664
ClinVar ID: CV1030434
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 67,256,779
GRCh38 11 67,489,308
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302959.2:c.144C>G
NM_001302960.2:c.321C>G
NM_003977.4:c.321C>G
LRG_460:g.11275C>G
More... 		07/21/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRKIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRKIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*

Gene Symbol:AIP
Accession:NM_001302959
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRKIAVGKDPLEGQRHCCGVAQMREHSSLGHADLD
ALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPG
SPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALA
PVVSRELRALEARIRQKDEEDKARFRGIFSH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001346540 CLINVAR
dbSNP (RS) rs901955664 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR