rs756336644 Rat Genome Database

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Variant: rs756336644 -  Homo sapiens

RGD ID: 13531312
RS ID: rs756336644
ClinVar ID: CV506347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG1  EEF2KMT  LOC127883023  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 5,134,735
GRCh38 16 5,084,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.5134735C>T
NG_009202.1:g.17926C>T
NC_000016.10:g.5084734C>T
NM_001289029.2:c.*898G>A
More... 		04/04/2017 3 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:NM_201400
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_201598
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:3UTRS;EXON

Gene Symbol:ALG1
Accession:NM_019109
Location:INTRON

Gene Symbol:ALG1
Accession:XM_017023457
Location:INTRON

Gene Symbol:ALG1
Accession:NM_001330504
Location:INTRON

Gene Symbol:ALG1
Accession:XR_007064892
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000606428 CLINVAR
dbSNP (RS) rs756336644 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ALG1 CLINVAR
  EEF2KMT CLINVAR
OMIM 605907 CLINVAR
  615263 CLINVAR