RGD:15154980 Rat Genome Database

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Variant: RGD:15154980 -  Homo sapiens

RGD ID: 15154980
RS ID: rs3213740
ClinVar ID: CV778909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALCRL-AS1  TFPI  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 188,348,843
GRCh38 2 187,484,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329239.2:c.628+8T>C
NM_001329240.2:c.628+8T>C
NM_001329241.2:c.628+8T>C
NM_006287.6:c.628+8T>C
More... 		03/05/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TFPI
Accession:XM_047445622
Location:INTRON

Gene Symbol:TFPI
Accession:NM_001329239
Location:INTRON

Gene Symbol:TFPI
Accession:NM_001032281
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445617
Location:INTRON

Gene Symbol:TFPI
Accession:NM_001329240
Location:INTRON

Gene Symbol:TFPI
Accession:NM_001318941
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445618
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445619
Location:INTRON

Gene Symbol:TFPI
Accession:NM_006287
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445621
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445623
Location:INTRON

Gene Symbol:TFPI
Accession:NM_001329241
Location:INTRON

Gene Symbol:TFPI
Accession:XM_047445620
Location:INTRON

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

Gene Symbol:CALCRL-AS1
Accession:NR_187178
Location:INTRON;NON-CODING

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

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

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

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

Gene Symbol:CALCRL-AS1
Accession:NR_187180
Location:INTRON;NON-CODING

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

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

Gene Symbol:CALCRL-AS1
Accession:NR_187179
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968838 CLINVAR
dbSNP (RS) rs3213740 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CALCRL-AS1 CLINVAR
  TFPI CLINVAR
OMIM 152310 CLINVAR