rs777245398 Rat Genome Database

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Variant: rs777245398 -  Homo sapiens

RGD ID: 8565952
RS ID: rs777245398
ClinVar ID: CV32015
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 94,780,954
GRCh38 14 94,314,617
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001756.4:c.32G>A
NC_000014.9:g.94314617C>T
NC_000014.8:g.94780954C>T
NM_001756.3:c.32G>A
More... 		06/01/2011 nonsense pathogenic <1 / 1 000 000 CBG DEFICIENCY; TRANSCORTIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINA6
Accession:NM_001756
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLL*LPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMG
IADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLAR
VMNPV*

Gene Symbol:SERPINA6
Accession:XM_047431827
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLL*LPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKH
IHIWESPSSPQSCWTCLLLFLGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTV
FFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSS
KVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV*
Variant Samples
Additional References at PubMed
PMID:11502797  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018497 CLINVAR
dbSNP (RS) rs777245398 CLINVAR
MedGen C1852529 CLINVAR
NCBI Gene SERPINA6 CLINVAR
OMIM 122500 CLINVAR
  611489 CLINVAR
OMIM Allele 122500.0003 CLINVAR