RGD:13480945 Rat Genome Database

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Variant: RGD:13480945 -  Homo sapiens

RGD ID: 13480945
RS ID: rs1555573462
ClinVar ID: CV445788
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFAP  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,985,469
GRCh38 17 44,908,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363846.2:c.1340A>T
NC_000017.11:g.44908101T>A
NG_008401.1:g.12446A>T
NC_000017.10:g.42985469T>A
More... 		10/06/2017 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GFAP
Accession:NM_001363846
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGEN
HKVTRYLKSLTIRVIPIQAHQIVNGTPPARETSLDTKSVSEGHLKRIIVVKTVEMRDGEVIKESKQEHKDVM*

Gene Symbol:GFAP
Accession:NM_002055
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVS
EGHLKRIIVVKTVEMRDGEVIKESKQEHKDVM*

Gene Symbol:GFAP
Accession:NM_001131019
Location:INTRON

Gene Symbol:GFAP
Accession:NM_001242376
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000521369 CLINVAR
dbSNP (RS) rs1555573462 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GFAP CLINVAR
OMIM 137780 CLINVAR