RGD:329350538 Rat Genome Database

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Variant: RGD:329350538 -  Homo sapiens

RGD ID: 329350538
ClinVar ID: CV2470189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FXR2  LOC130060165  SHBG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 7,517,837
GRCh38 17 7,614,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004851.2:p.Ala5Val
LRG_285t1:c.14C>T
NM_001289114.2:c.-62+408G>A
NM_004860.4:c.14C>T
More... 		03/14/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SHBG
Accession:NM_001289114
Location:5UTRS;INTRON

Gene Symbol:FXR2
Accession:NM_004860
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGLDSGGDVEPGLPVEVRGSNGAFYKGFVKDVHEDSVTIFFENNWQSERQIPFGDVRLPPPADYNKEITEGDEVEVYSR
ANEQEPCGWWLARVRMMKGDFYVIEYAACDATYNEIVTLERLRPVNPNPLATKGSFFKVTMAVPEDLREACSNENVHKEF
KKALGANCIFLNITNSELFILSTTEAPVKRASLLGDMHFRSLRTKLLLMSRNEEATKHLETSKQLAAAFQEEFTVREDLM
GLAIGTHGANIQQARKVPGVTAIELGEETCTFRIYGETPEACRQARSYLEFSEDSVQVPRNLVGKVIGKNGKVIQEIVDK
SGVVRVRVEGDNDKKNPREEGMVPFIFVGTRENISNAQALLEYHLSYLQEVEQLRLERLQIDEQLRQIGLGFRPPGSGRG
SGGSDKAGYSTDESSSSSLHATRTYGGSYGGRGRGRRTGGPAYGPSSDVSTASETESEKREEPNRAGPGDRDPPTRGEES
RRRPTGGRGRGPPPAPRPTSRYNSSSISSVLKDPDSNPYSLLDTSEPEPPVDSEPGEPPPASARRRRSRRRRTDEDRTVM
DGGLESDGPNMTENGLEDESRPQRRNRSRRRRNRGNRTDGSISGDRQPVTVADYISRAESQSRQRPPLERTKPSEDSLSG
QKGDSVSKLPKGPSENGELSAPLELGSMVNGVS*

Gene Symbol:FXR2
Accession:XM_047437106
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGLDSGGDVEPGLPVEVRGSNGAFYKGFVKDVHEDSVTIFFENNWQSERQIPFGDVRLPPPADYNKEITEGDEVEVYSR
ANEQEPCGWWLARVRMMKGDFYVIEYAACDATYNEIVTLERLRPVNPNPLATKGSFFKVTMAVPEDLREACSNENVHKEF
KKALGANCIFLNITNSELFILSTTEAPVKRASLLGDMHFRSLRTKLLLMSRNEEATKHLETSKQLAAAFQEEFTVREDLM
GLAIGTHGANIQQARKVPGVTAIELGEETCTFRIYGETPEACRQARSYLEFSEDSVQVPRNLVGKVIGKNGKVIQEIVDK
SGVVRVRVEGDNDKKNPREEGMVPFIFVGTRENISNAQALLEYHLSYLQEVEQLRLERLQIDEQLRQIGLGFRPPGSGRG
SGGSDKAGYSTDESSSSSLHATRTYGGSYGGRGRGRRTGGPAYGPSSDVSTASETESEKREEPNRAGPGDRDPPTRGEES
RRRPTGGRGRGPPPAPRPTSRYNSSSISSVLKDPDSNPYSLLDTSEPEPPVDSEPGEPPPASARRRRSRRRRTDEDRTVM
DGGLESDGPNMTENGLEDESRPQRRNRSRRRRNRGNRTDGSISGDRQPVTVADYISRAESQSRQRPPLERTKPSEDSLSG
QKRQLCLMEFRPV*

Gene Symbol:SHBG
Accession:NM_001289113
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001289116
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001040
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001289115
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001146281
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001146279
Location:INTRON

Gene Symbol:SHBG
Accession:NM_001146280
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004287429 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FXR2 CLINVAR
  LOC130060165 CLINVAR
  SHBG CLINVAR
OMIM 182205 CLINVAR
  605339 CLINVAR