RGD:15198161 Rat Genome Database

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Variant: RGD:15198161 -  Homo sapiens

RGD ID: 15198161
RS ID: rs28742115
ClinVar ID: CV700387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL38  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 124,664,657
GRCh38 8 123,652,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001081675.3:c.510C>T
NC_000008.11:g.123652417G>A
NC_000008.10:g.124664657G>A
NM_001081675.2:c.510C>T
More... 		01/25/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KLHL38
Accession:NM_001081675
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEESLDGLLFKDHDFSSDLLRQLNSLRQSRILTDVSICAGAREIPCHRNVLASSSPYFRAMFCSSFREKSEAKVQLKGI
DPPTLDQIVSYVYTGEAHIATDNVLPVMEAASMLQFPKLFEACSSYLQSQLAPSNCLGMIRLSEILSCETLKKKAREVAL
TSFPEVAASADLKELCALELRDYLGDDGLCGEEEKVFEALMVWIKHDLQARKRYMQELFKQVRLQYIHPAFFHHFIANDA
LLQSSPACQIILETAKRQMFSLCGTTVPDCKLLLHVPPRNSYQDFLILLGGRKDSQQTTRDVLLYSKQTGQWQSLAKLPT
RLYKASAITLHRSIYVLGGMAVSSGRSLVSHNVYIFSLKLNQWRLGEPMLVARYSHRSTAHKNFIFSIGGIGEGQELMGS
MERYDSICNVWESMASMPVGVLHPAVAVKDQRLYLFGGEDIMQNPVRLIQVYHISRNSWFKMETRMIKNVCAPAVVLGER
IVIVGGYTRRILAYDPQSNKFVKCADMKDRRMHHGATVMGNKLYVTGGRRLTTDCNIEDSASFDCYDPETDTWTSQGQLP
HKLFDHACLTLQCIPRTSGLP*

Gene Symbol:KLHL38
Accession:XM_047421744
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEESLDGLLFKDHDFSSDLLRQLNSLRQSRILTDVSICAGAREIPCHRNVLASSSPYFRAMFCSSFREKSEAKVQLKGI
DPPTLDQIVSYVYTGEAHIATDNVLPVMEAASMLQFPKLFEACSSYLQSQLAPSNCLGMIRLSEILSCETLKKKAREVAL
TSFPEVAASADLKELCALELRDYLGDDGLCGEEEKVFEALMVWIKHDLQARKRYMQELFKQVRLQYIHPAFFHHFIANDA
LLQSSPACQIILETAKRQMFSLCGTTVPDCKLLLHVPPRNSYQDFLILLGGRKDSQQTTRDVLLYSKQTGQWQSLAKLPT
RLYKASAITLHRSIYVLGGMAVSSGRSLVSHNVYIFSLKLNQWRLGEPMLVARYSHRSTAHKNFIFSIGGIGEGQELMGS
MERYDSICNVWESMASMPVGVLHPAVAVKDQRLYLFGGEDIMQNPVRLIQVYHISRNSWFKMETRMIKNVCAPAVVLGER
IVIVGGYTRRILAYDPQSNKFVKCADMKDRRMHHGATVMGNKLYVTGGRRLTTDCNIEDSASFDCYDPETDTWTSQGQLP
HKLFDHACLTLQCIPRTSGLP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000956670 CLINVAR
dbSNP (RS) rs28742115 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KLHL38 CLINVAR