RGD:12895993 Rat Genome Database

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Variant: RGD:12895993 -  Homo sapiens

RGD ID: 12895993
RS ID: rs113146399
ClinVar ID: CV390464
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPATC1L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,581,949
GRCh38 21 46,162,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_115637.3:p.Ala39Thr
NC_000021.9:g.46162035C>T
NC_000021.8:g.47581949C>T
NP_001136326.1:p.Ala193Thr
More... 		03/28/2016 missense variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SPATC1L
Accession:NM_001142854
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGGHDLLPPRAHAYPEAGSPGSGVPDFGRFTSVADTPSQ
LQTSSLEDLLCSHAPLSSEDDTSPGCAAPSQAPFKAFLSPPEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKK
VCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDTRVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDG
SVDERKLRELTQRYLALSARLEKLGYSRDVHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSL
LLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:NM_032261
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRPKKVCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDTRVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTS
TKSLDGSVDERKLRELTQRYLALSARLEKLGYSRDVHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPK
FLGDSLLLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:XM_005261188
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGGHDLLPPRAHAYPEAGSPGSGVPDFGRFTSVADTPSQ
LQTSSLEDLLCSHAPLSSEDDTSPGCAAPSQAPFKAFLSPPEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKK
VCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDTRVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDG
SVDERKLRELTQRYLALSARLEKLGYSRDVHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSL
LLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:XM_011529756
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGCQDRRTLPLPPSQADRPCSTGVLTGGDPSQLRPPGPGSSVLAGADAGADSRVTGDQSPPPRLKEIQSFAGAEKDTR
VVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDGSVDERKLRELTQRYLALSARLEKLGYSRDVHPAF
SEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSLLLLNCLCELSKEDGKPLFAW*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454732 CLINVAR
  RCV001534394 CLINVAR
dbSNP (RS) rs113146399 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SPATC1L CLINVAR
OMIM 612412 CLINVAR