RGD:11543399 Rat Genome Database

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Variant: RGD:11543399 -  Homo sapiens

RGD ID: 11543399
RS ID: rs11870
ClinVar ID: CV257480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP410  LOC130066823  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,759,045
GRCh38 21 44,339,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032952.1:g.5241G>A
NC_000021.9:g.44339162C>T
NC_000021.8:g.45759045C>T
NP_004919.1:p.Arg11=
More... 		05/04/2021 2kb upstream variant|synonymous variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP410
Accession:XM_047440986
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440982
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREH
GASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTR
PQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_001271440
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGS
RLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_004928
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG
SRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_001271441
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHG
ASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRP
QAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_006724051
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440983
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440987
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440985
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440980
Location:INTRON

Gene Symbol:CFAP410
Accession:NM_001271442
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440981
Location:INTRON

Gene Symbol:CFAP410
Accession:XM_047440984
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242404 CLINVAR
  RCV001517864 CLINVAR
dbSNP (RS) rs11870 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C21orf2 CLINVAR
  LOC130066823 CLINVAR
OMIM 603191 CLINVAR