RGD:25314992 Rat Genome Database

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Variant: RGD:25314992 -  Homo sapiens

RGD ID: 25314992
RS ID: rs1377925060
ClinVar ID: CV810933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,258,407
GRCh38 11 67,490,936
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.67490936G>A
NC_000011.9:g.67258407G>A
NM_003977.4:c.936G>A
LRG_460:g.12903G>A
More... 		10/31/2019 3 prime utr variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302960
Location:3UTRS;EXON

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 312
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302959
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLD
ALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPG
SPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALA
PVVSRELRALEARIRQKDEEDKARFRGIFSH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001019222 CLINVAR
dbSNP (RS) rs1377925060 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR
SNOMED CT 699346009 CLINVAR