RGD:8631106 Rat Genome Database

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Variant: RGD:8631106 -  Homo sapiens

RGD ID: 8631106
ClinVar ID: CV86262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPM6A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 176,556,182
GRCh38 4 175,635,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.175635031G>T
NC_000004.11:g.176556182G>T
NM_201592.2:c.678C>A
NM_201591.2:c.711C>A
More... 		non-coding transcript variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:GPM6A
Accession:NM_005277
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENMEEGQTQKGCFECCIKCLGGIPYASLIATILLYAGVALFCGCGHEALSGTVNILQTYFEMARTAGDTLDVFTMIDI
FKYVIYGIAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLGVTAFTSLPVYMYFNLWT
ICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGAAVIAMVHYLMVLSANWA
YVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NM_001388091
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARTAGDTLDVFTMIDIFKYVIYGIAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLG
VTAFTSLPVYMYFNLWTICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGA
AVIAMVHYLMVLSANWAYVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NM_201592
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCFECCIKCLGGIPYASLIATILLYAGVALFCGCGHEALSGTVNILQTYFEMARTAGDTLDVFTMIDIFKYVIYGIAAA
FFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLGVTAFTSLPVYMYFNLWTICRNTTLVEGA
NLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGAAVIAMVHYLMVLSANWAYVKDACRMQKY
EDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NM_001261447
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVKGGRVGASGEETHSEGEENGLLAEEAGGKREGSVRPQSRQAPCELSPLGGARLSLARARGASARLGELGPAQRLVTR
SPLGTAEKQDLGPWFIMLTYLFMLAWLGVTAFTSLPVYMYFNLWTICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVS
ENFLRMCESTELNMTFHLFIVALAGAGAAVIAMVHYLMVLSANWAYVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLN
AYT*

Gene Symbol:GPM6A
Accession:NM_201591
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENMEEGQTQKGCFECCIKCLGGIPYASLIATILLYAGVALFCGCGHEALSGTVNILQTYFEMARTAGDTLDVFTMIDI
FKYVIYGIAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLGVTAFTSLPVYMYFNLWT
ICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGAAVIAMVHYLMVLSANWA
YVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NM_001388090
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARTAGDTLDVFTMIDIFKYVIYGIAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLG
VTAFTSLPVYMYFNLWTICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGA
AVIAMVHYLMVLSANWAYVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NM_001261448
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTDLEGCFECCIKCLGGIPYASLIATILLYAGVALFCGCGHEALSGTVNILQTYFEMARTAGDTLDVFTMIDIFKYVIYG
IAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLGVTAFTSLPVYMYFNLWTICRNTTL
VEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGAAVIAMVHYLMVLSANWAYVKDACR
MQKYEDIKSKEEQELHDIHSTRSKERLNAYT*

Gene Symbol:GPM6A
Accession:NR_048571
Location:EXON;NON-CODING

Variant Samples