RGD:11600264 Rat Genome Database

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Variant: RGD:11600264 -  Homo sapiens

RGD ID: 11600264
RS ID: rs773285320
ClinVar ID: CV321365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CATSPER1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 65,792,881
GRCh38 11 66,025,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016285.1:g.6108C>G
NC_000011.10:g.66025410G>C
NC_000011.9:g.65792881G>C
NP_444282.3:p.Gln324Glu
More... 		06/14/2016 missense variant uncertain significance CATSPER-Related Male Infertility; MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CATSPER1
Accession:XM_047426338
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYELHHHGVPHQRGESHHPPEFQDFHDQALSSHVHQSHH
HSEARNHGRAHGPTGFGLAPSQGAVPSHRSYGEDYHDELQRDGRRHHDGSQYGGFHQQSDSHYHRGSHHGRPQYLGENLS
HYSSGVPHHGEASHHGGSYLPHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWPHHHQVHHHGRSRHHEAHQHGKS
PHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSEYHHGDHPHHTQHHYHQTHRHRDYHQHQDHHGAYHSSYLHGDYVQ
STSELSIPHTSRSLIHDAPGPAASRTGVFPYHVAHPRGSAHSMTRSSSTIRSRVTQMSKKVHTQDISTKHSEDWGKEEGQ
FQKRKTGRLQRTRKKGHSTNLFQWLWEKLTFLIQGFREMIRNLTQSLAFETFIFFVVCLNTVMLVAQTFAEVEIRGEWYF
MALDSIFFCIYVVEALLKIIALGLSYFFDFWNNLDPLLRHLPPKPLPDPQGLQEPAGPEGNPGPAEAQLPDQRPGSDRDP
GPVLAVHRSHPHPHVYLPLPLLRGPPGTVPQI*

Gene Symbol:CATSPER1
Accession:NM_053054
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYELHHHGVPHQRGESHHPPEFQDFHDQALSSHVHQSHH
HSEARNHGRAHGPTGFGLAPSQGAVPSHRSYGEDYHDELQRDGRRHHDGSQYGGFHQQSDSHYHRGSHHGRPQYLGENLS
HYSSGVPHHGEASHHGGSYLPHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWPHHHQVHHHGRSRHHEAHQHGKS
PHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSEYHHGDHPHHTQHHYHQTHRHRDYHQHQDHHGAYHSSYLHGDYVQ
STSELSIPHTSRSLIHDAPGPAASRTGVFPYHVAHPRGSAHSMTRSSSTIRSRVTQMSKKVHTQDISTKHSEDWGKEEGQ
FQKRKTGRLQRTRKKGHSTNLFQWLWEKLTFLIQGFREMIRNLTQSLAFETFIFFVVCLNTVMLVAQTFAEVEIRGEWYF
MALDSIFFCIYVVEALLKIIALGLSYFFDFWNNLDFFIMAMAVLDFLLMQTHSFAIYHQSLFRILKVFKSLRALRAIRVL
RRLSFLTSVQEVTGTLGQSLPSIAAILILMFTCLFLFSAVLRALFRKSDPKRFQNIFTTIFTLFTLLTLDDWSLIYMDSR
AQGAWYIIPILVIYIIIQYFIFLNLVITVLVDSFQTALFKGLEKAKQERAARIQEKLLEDSLTELRAAEPKEVASEGTML
KRLIEKKFGTMTEKQQELLFHYLQLVASVEQEQQKFRSQAAVIDEIVDTTFEAGEEDFRN*

Gene Symbol:CATSPER1
Accession:XM_047426337
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYELHHHGVPHQRGESHHPPEFQDFHDQALSSHVHQSHH
HSEARNHGRAHGPTGFGLAPSQGAVPSHRSYGEDYHDELQRDGRRHHDGSQYGGFHQQSDSHYHRGSHHGRPQYLGENLS
HYSSGVPHHGEASHHGGSYLPHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWPHHHQVHHHGRSRHHEAHQHGKS
PHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSEYHHGDHPHHTQHHYHQTHRHRDYHQHQDHHGAYHSSYLHGDYVQ
STSELSIPHTSRSLIHDAPGPAASRTGVFPYHVAHPRGSAHSMTRSSSTIRSRVTQMSKKVHTQDISTKHSEDWGKEEGQ
FQKRKTGRLQRTRKKGHSTNLFQWLWEKLTFLIQGFREMIRNLTQSLAFETFIFFVVCLNTVMLVAQTFAEVEIRGEWYF
MALDSIFFCIYVVEALLKIIALGLSYFFDFWNNLDFFIMAMAVLDFLLMQTHSFAIYHQSLFRILKVFKSLRALRAIRVL
RRLSFLTSVQEVTGTLGQSLPSIAAILILMFTCLFLFSAVLRALFRKSDPKRFQNIFTTIFTLFTLLTLDDWSLIYMDSR
AQGAWYIIPILVIYIIIQYFIFLNLVITVLVDSFQTALFKGLEKAKQERAARIQEKLLEDSLTELRAAEPKEVASEGTML
KRLIEKKFGTMTEK*

Gene Symbol:CATSPER1
Accession:XR_002957121
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000272498 CLINVAR
dbSNP (RS) rs773285320 CLINVAR
MedGen C2751811 CLINVAR
NCBI Gene CATSPER1 CLINVAR
OMIM 606389 CLINVAR
  612997 CLINVAR