RGD:12906240 Rat Genome Database

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Variant: RGD:12906240 -  Homo sapiens

RGD ID: 12906240
RS ID: rs773945644
ClinVar ID: CV415090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHH  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 155,596,120
GRCh38 7 155,803,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001310462.2:c.301+2870C>A
NM_000193.2:c.863C>A
NG_007504.2:g.13848C>A
NC_000007.14:g.155803426G>T
More... 		04/25/2017 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SHH
Accession:XM_011516480
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLFPSPGPGSSRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVE
AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDG
AKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEAYSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRL
LPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRG
GGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:NM_000193
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNSERFKELTPNY
NPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGM
LARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEAYSGSGPPSGGALGPRALFASRVRPGQRVYVVAE
RDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGD
SGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_047420718
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAA
KSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLF
VAPHNDSATGEPEAYSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGT
ILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGAADAPGAGATAGIH
WYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_011516479
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLFPSPGPGSSRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVE
AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDG
AKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEAYSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRL
LPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRG
GGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:NM_001310462
Location:INTRON

Gene Symbol:SHH
Accession:NR_132319
Location:INTRON;NON-CODING

Gene Symbol:SHH
Accession:NR_132318
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000488988 CLINVAR
dbSNP (RS) rs773945644 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SHH CLINVAR
OMIM 600725 CLINVAR