RGD:15158448 Rat Genome Database

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Variant: RGD:15158448 -  Homo sapiens

RGD ID: 15158448
RS ID: rs17854925
ClinVar ID: CV710597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EEF1A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 74,228,191
GRCh38 6 73,518,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001402.6:c.915G>A
NC_000006.12:g.73518468C>T
NC_000006.11:g.74228191C>T
NM_001402.5:c.915G>A
More... 		07/06/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EEF1A1
Accession:NM_001402
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKF
ETSKYYVTIIDAPGHRDFIKNMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEP
PYSQKRYEEIVKEVSTYIKKIGYNPDTVAFVPISGWNGDNMLEPSANMPWFKGWKVTRKDGNASGTTLLEALDCILPPTR
PTDKPLRLPLQDVYKIGGIGTVPVGRVETGVLKPGMVVTFAPVNVTTEVKSVEMHHEALSEALPGDNVGFNVKNVSVKDV
RRGNVAGDSKNDPPMEAAGFTAQVIILNHPGQISAGYAPVLDCHTAHIACKFAELKEKIDRRSGKKLEDGPKFLKSGDAA
IVDMVPGKPMCVESFSDYPPLGRFAVRDMRQTVAVGVIKAVDKKAAGAGKVTKSAQKAQKAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000969514 CLINVAR
dbSNP (RS) rs17854925 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EEF1A1 CLINVAR
OMIM 130590 CLINVAR