rs769978145 Rat Genome Database

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Variant: rs769978145 -  Homo sapiens

RGD ID: 126746234
RS ID: rs769978145
ClinVar ID: CV1017861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 94,780,447
GRCh38 14 94,314,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001756.4:c.539G>A
NG_011796.1:g.14242G>A
NC_000014.9:g.94314110C>T
NC_000014.8:g.94780447C>T
More... 		07/30/2020 missense variant uncertain significance 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: G to E (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQEKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMG
IADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLAR
VMNPV*

Gene Symbol:SERPINA6
Accession:XM_047431827
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQEKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKH
IHIWESPSSPQSCWTCLLLFLGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTV
FFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSS
KVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001330835 CLINVAR
dbSNP (RS) rs769978145 CLINVAR
MedGen C1852529 CLINVAR
NCBI Gene SERPINA6 CLINVAR
OMIM 122500 CLINVAR
  611489 CLINVAR