RGD:8631291 Rat Genome Database

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Variant: RGD:8631291 -  Homo sapiens

RGD ID: 8631291
ClinVar ID: CV86451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOWAHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 77,817,391
GRCh38 4 76,896,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001029870.1:c.1612G>A
NC_000004.12:g.76896238C>T
NC_000004.11:g.77817391C>T
NP_001025041.1:p.Ala538Thr
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:SOWAHB
Accession:NM_001029870
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 538
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARELSQEALLDFLCQAGGRVTNAALLSHFKSFLRDPDASPSQHQHRRELFKGFVNSVAAVRQDPDGTKYVVLKRRYRDL
LGEEGLQRPREPPAAAPSAGGAAPCSPRGARRGEPPQQQPRRRRREKEPEEEPAGAAARAADAACNGLPGSDSRRAPGKG
GGSKGSPGQRPPVPAAAAAGAQARASCAAAKTQGRCCWECLQNNLAVLPGELGALPHSATAEEKPARALPAQDDRGASRE
REEGALAEPAPVPAVAHSPPATVEAATSRASPPALLPGPAPRGDRPELLTPSSLHYSTLQQQQQRTREWVARHPQVPEAR
DQGPIRAWSVLPDNFLQLPLEPGSTEPNSEPPDPCLSSHSLFPVVPDESWESWAGNPSLTVFRSIRCQLSLQDLDDFVDQ
ESDGSEESSSGPKDSPGASEEGLQVVLGTPDRGKLRNPAGGLSVSRKEGSPSRSPQGLRNRGDGHISQQVPAGANGLAGH
PLKPLPWPVPKLRRSLRRSSLAGRAKLSSSDEEYLDEGLLKRSRRPPRSRKPSKAGTTPSPRVDAGLSLKLAEVKAVVAE
RGWRHSLWVPSGEGSAALAPHRTSEHKSSLVPLDAREHEWIVKLASGSWIQVWTLFWEDPQLALHKDFLTGYTALHWIAK
HGDLRALQDLVSGAKKAGIVLDVNVRSSCGYTPLHLAAIHGHQGVIKLLVQRLASRVNVRDSSGKKPWQYLTSNTSGEIW
QLLGAPRGKPIFPVYPLVGSSSPTRKAKSKEISRSVTRKTSFAALLKSQHNKWKLANQYEKFHSPREREEYSD*
Variant Samples