rs1438320553 Rat Genome Database

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Variant: rs1438320553 -  Homo sapiens

RGD ID: 13468268
RS ID: rs1438320553
ClinVar ID: CV453600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRELD1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 9,985,587
GRCh38 3 9,943,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031717.3:c.1050T>G
NP_001026887.2:p.Gly350=
NC_000003.12:g.9943903T>G
NC_000003.11:g.9985587T>G
More... 		02/23/2017 intron variant likely benign Atrioventricular septal defect 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRELD1
Accession:NM_001410713
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:XM_047448897
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:XM_047448898
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQVAKLG
SQSRQSDRGTRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001031717
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQVAKLG
SQSRQSDRGTRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001374317
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGTRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:XM_011534108
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGTRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001374318
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGTRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001077415
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374319
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374316
Location:INTRON

Gene Symbol:CRELD1
Accession:XM_047448900
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374320
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_015513
Location:INTRON

Gene Symbol:CRELD1
Accession:NR_164475
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164477
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164476
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000544413 CLINVAR
dbSNP (RS) rs1438320553 CLINVAR
MedGen C1853508 CLINVAR
NCBI Gene CRELD1 CLINVAR
OMIM 606217 CLINVAR
  607170 CLINVAR