RGD:8628849 Rat Genome Database

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Variant: RGD:8628849 -  Homo sapiens

RGD ID: 8628849
ClinVar ID: CV83993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRAMEF11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 12,887,227
GRCh38 1 12,827,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.9:g.12809814T>C
NC_000001.11:g.12827368T>C
NC_000001.10:g.12887227T>C
XM_001714837.1:c.860A>G
More... 		synonymous variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PRAMEF11
Accession:XM_011541479
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMSIRIPPRLLELAGRSLLRDQALAVSTLEELPTELFPPLFMEAFSRRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAF
QAVLDGLDALLTQGVRPRRWKLQVLDLQDVCENFWMVWSEAMAHGCFLNAKRNKKPVQDCPRMRGRQPLTVFVELWLKNR
TLDEYLTCLLLWVKQRRDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWILPILTQFTPYLGHLRNLQKLV
LSHMDVSRYVSPEQKKEIVTQFTTQFLKLRCLQKLYMNSVSFLEGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCP
SISQLKTLDLSGIRLTNYSLVPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPICMATLENL
LSHTIILKNLCLELYPAPQESYGADGTLCWSRFAQIRAELMKKVRHLRHPKRILFCTDNCPDHGDRSFYDLEADQYCC*

Gene Symbol:PRAMEF11
Accession:NM_001146344
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMSIRIPPRLLELAGRSLLRDQALAVSTLEELPTELFPPLFMEAFSRRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAF
QAVLDGLDALLTQGVRPRRWKLQVLDLQDVCENFWMVWSEAMAHGCFLNAKRNKKPVQDCPRMRGRQPLTVFVELWLKNR
TLDEYLTCLLLWVKQRRDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWILPILTQFTPYLGHLRNLQKLV
LSHMDVSRYVSPEQKKEIVTQFTTQFLKLRCLQKLYMNSVSFLEGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCP
SISQLKTLDLSGIRLTNYSLVPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPICMATLENL
LSHTIILKNLCLELYPAPQESYGADGTLCWSRFAQIRAELMKKVRHLRHPKRILFCTDNCPDHGDRSFYDLEADQYCC*
Variant Samples