RGD:13537052 Rat Genome Database

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Variant: RGD:13537052 -  Homo sapiens

RGD ID: 13537052
RS ID: rs34973107
ClinVar ID: CV500359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELMOD3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 85,617,310
GRCh38 2 85,390,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_051291.1:g.40794G>A
NC_000002.12:g.85390187G>A
NC_000002.11:g.85617310G>A
NP_001128494.1:p.Ala289Thr
More... 		12/15/2017 missense variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ELMOD3
Accession:NM_001135023
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:NM_001329793
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445971
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445966
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_047445968
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:NM_001135021
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:NM_001135022
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:NM_001329791
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:NM_001329792
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445976
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445967
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_047445973
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445975
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445965
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:NM_032213
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_024453170
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_047445974
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445964
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_047445969
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_047445972
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKELEVLA
KKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI*

Gene Symbol:ELMOD3
Accession:XM_047445963
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_024453169
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:XM_024453171
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWE
AVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIA
QCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYTATFLHLAHVWRTQRKTISDSGFVLKGVLFLL
GRPRLNAQCPRSREPKVVARLVLAAVLPHPHFLKFQLTKISITHPLESASSPFSALTVALFWSYTYDKHIF*

Gene Symbol:ELMOD3
Accession:NR_138133
Location:EXON;NON-CODING

Gene Symbol:ELMOD3
Accession:NR_138132
Location:EXON;NON-CODING

Gene Symbol:ELMOD3
Accession:NR_138131
Location:EXON;NON-CODING

Gene Symbol:ELMOD3
Accession:XM_047445978
Location:INTRON

Gene Symbol:ELMOD3
Accession:XM_047445979
Location:INTRON

Gene Symbol:ELMOD3
Accession:XM_047445977
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609859 CLINVAR
  RCV000954232 CLINVAR
  RCV003927975 CLINVAR
dbSNP (RS) rs34973107 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ELMOD3 CLINVAR
OMIM 615427 CLINVAR