RGD:8637229 Rat Genome Database

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Variant: RGD:8637229 -  Homo sapiens

RGD ID: 8637229
ClinVar ID: CV92455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYNDIG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 24,524,040
GRCh38 20 24,543,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.24543404G>A
NC_000020.10:g.24524040G>A
NP_079169.1:p.Gly103Arg
NM_024893.2:c.307G>A
More...
missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:SYNDIG1
Accession:NM_024893
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_011529356
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELPFLPRSIHEPVSMPTAEATWACFVL*

Gene Symbol:SYNDIG1
Accession:XM_011529358
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHE*

Gene Symbol:SYNDIG1
Accession:XM_011529347
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_011529348
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_011529350
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_011529351
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_011529354
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_011529353
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:NM_001323606
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:NM_001323607
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_017028069
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
*

Gene Symbol:SYNDIG1
Accession:XM_017028065
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_017028067
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_017028066
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_017028064
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_017028068
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL*

Gene Symbol:SYNDIG1
Accession:XM_047440499
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHEVAGHLPWGLRLMPCSQPCRWSPAASCVLNDESLC
PGLLRLCLCCELKRFL*

Gene Symbol:SYNDIG1
Accession:XM_047440496
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_047440497
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_047440498
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
SDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHELITLEEMAAFNSSILFSSSQGLVPWTSSIRVIWE
RFRIVKSRQLPRPADSEALGTGLAVWV*

Gene Symbol:SYNDIG1
Accession:XM_047440500
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLDPNTLQ
QSVESRYRPNIILYSEGVLRSWRDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELE
*

Gene Symbol:SYNDIG1
Accession:NR_147606
Location:EXON;NON-CODING

Variant Samples