RGD:8630366 Rat Genome Database

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Variant: RGD:8630366 -  Homo sapiens

RGD ID: 8630366
ClinVar ID: CV85521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PREPL  SLC3A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,547,641
GRCh38 2 44,320,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006036.4:c.*854C>T
NM_001042385.2:c.*854C>T
NM_001171617.1:c.*854C>T
NM_001171613.1:c.*854C>T
More... 		3 prime utr variant|missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PREPL
Accession:XM_017005385
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374276
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446444
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446446
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001042385
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446443
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446441
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171617
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171606
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_006036
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446445
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171613
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171603
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446442
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001042386
Location:3UTRS;EXON

Gene Symbol:SLC3A1
Accession:XM_011533047
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374277
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374275
Location:3UTRS;EXON

Gene Symbol:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 641
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
NKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*
Variant Samples