RGD:15170841 Rat Genome Database

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Variant: RGD:15170841 -  Homo sapiens

RGD ID: 15170841
RS ID: rs77857768
ClinVar ID: CV715269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 17,425,684
GRCh38 17 17,522,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001267551.2:c.164G>A
NM_148172.3:c.230G>A
NC_000017.11:g.17522370C>T
NC_000017.10:g.17425684C>T
More... 		05/30/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PEMT
Accession:XM_006721418
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQLIRFQLFIFPFMRLHCSNLCRTWMFPGLPVCSQRADFCVMTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHK
THKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFL
GDYFGILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASPTGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKR
S*

Gene Symbol:PEMT
Accession:XM_024450532
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPR
MESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASP
TGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS*

Gene Symbol:PEMT
Accession:NM_148172
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRSGNPGAEVTNSSVAGPDCCGGLGNIDFRQADFCVMTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLS
RAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFG
ILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASPTGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS*

Gene Symbol:PEMT
Accession:NM_007169
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPR
MESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASP
TGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS*

Gene Symbol:PEMT
Accession:NM_001267551
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRSGNPGAEADFCVMTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLSRAFGSPYLACYSLSVTILLLNF
LRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWG
STANYLGWAIMHASPTGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS*

Gene Symbol:PEMT
Accession:NM_001267552
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRSGNPGAEVTNSSVAGPDCCGGLGNIDFRQADFCVMTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLS
RAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFG
ILKEARVTVFPFNILDNPMYWGSTANYLGWAIIPAPAGAVGSEARQPHGPAPDGAGGPHLHSGSPIRRALHR*

Gene Symbol:PEMT
Accession:NM_148173
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTHKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAMLSQPR
MESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASP
TGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS*

Gene Symbol:PEMT
Accession:XM_017024016
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000972086 CLINVAR
dbSNP (RS) rs77857768 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PEMT CLINVAR
OMIM 602391 CLINVAR