RGD:15115948 Rat Genome Database

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Variant: RGD:15115948 -  Homo sapiens

RGD ID: 15115948
RS ID: rs6730396
ClinVar ID: CV708269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALLC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 3,749,119
GRCh38 2 3,701,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018436.4:c.868T>C
NC_000002.12:g.3701529T>C
NC_000002.11:g.3749119T>C
NM_018436.3:c.868T>C
More... 		05/09/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALLC
Accession:XM_011510369
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGWETRRKRIPGHDWCVLRLGIQGVIRGFDVDVSYFTGDYAPRVSIQAANLEEDKLPEIPERGTRTGAAATPEEFEAIA
ELKSDDWSYLVPMTELKPGNPASGHNYFLVNSQQRWTHIRLNIFPDGGIARLRVFGTGQKDWTATDPKEPADLVAIAFGG
VCVGFSNAKFGHPNNIIGVGGAKSMADGWETARRLDRPPILENDENGILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGN
APDSRKVDGCILTTQEEEAVIRQKWILPAHKWKPLLPVTKLSPNQSHLFDSLTLELQDVITHARLTIVPDGGVSRLRLRG
FPSSICLLRPREKPMLKFSVSFKANP*

Gene Symbol:ALLC
Accession:XM_017004497
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTELKPGNPASGHNYFLVNSQQRWTHIRLNIFPDGGIARLRVFGTGQKDWTATDPKEPADLVAIAFGGVCVGFSNAKFGH
PNNIIGVGGAKSMADGWETARRLDRPPILENDENGILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGNAPDSRKVDGCIL
TTQEEEAVIRQKWILPAHKWKPLLPVTKLSPNQSHLFDSLTLELQDVITHARLTIVPDGGVSRLRLRGFPSSICLLRPRE
KPMLKFSVSFKANP*

Gene Symbol:ALLC
Accession:XM_017004498
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTGIFQILDLGHSTNGGIARLRVFGTGQKDWTATDPKEPADLVAIAFGGVCVGFSNAKFGHPNNIIGVGGAKSMADGWE
TARRLDRPPILENDENGILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGNAPDSRKVDGCILTTQEEEAVIRQKWILPAH
KWKPLLPVTKLSPNQSHLFDSLTLELQDVITHARLTIVPDGGVSRLRLRGFPSSICLLRPREKPMLKFSVSFKANP*

Gene Symbol:ALLC
Accession:XM_017004496
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGWETRRKRIPGHDWCVLRLGIQGVIRGFDVDVSYFTGDYAPRVSIQAANLEEDKLPEIPERGTRTGAAATPEEFEAIA
ELKSDDWSYLVPMTELKPGNPASGHNYFLVNSQQRWTHIRLNIFPDGGIARLRVFGTGQKDWTATDPKEPADLVAIAFGG
VCVGFSNAKFGHPNNIIGVGGAKSMADGWETARRLDRPPILENDENGILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGN
APDSRKVDGCILTTQEEEAVIRQKWILPAHKWKPLLPVTKLSPNQSHLFDSLTLELQDVITHARLTIVPDGGVSRLRLRG
FPSSICLLRPREKPMLKFSVSFKANP*

Gene Symbol:ALLC
Accession:NM_018436
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMASESVGGKILFATDDFFAPAENLIKSDSPCFKEHEYTEFGKWMDGWETRRKRIPGHDWCVLRLGIQGVIRGFDVDVS
YFTGDYAPRVSIQAANLEEDKLPEIPERGTRTGAAATPEEFEAIAELKSDDWSYLVPMTELKPGNPASGHNYFLVNSQQR
WTHIRLNIFPDGGIARLRVFGTGQKDWTATDPKEPADLVAIAFGGVCVGFSNAKFGHPNNIIGVGGAKSMADGWETARRL
DRPPILENDENGILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGNAPDSRKVDGCILTTQEEEAVIRQKWILPAHKWKPL
LPVTKLSPNQSHLFDSLTLELQDVITHARLTIVPDGGVSRLRLRGFPSSICLLRPREKPMLKFSVSFKANP*

Gene Symbol:ALLC
Accession:XM_017004495
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQVPGNDVQLEKQVPLPRLLEGSPSERPGFCFIGADSVYERWSLPTGSTADAPKEGRLTRFLDFTQLMDMASESVGGKI
LFATDDFFAPAENLIKSDSPCFKEHEYTEFGKWMDGWETRRKRIPGHDWCVLRLGIQGVIRGFDVDVSYFTGDYAPRVSI
QAANLEEDKLPEIPERGTRTGAAATPEEFEAIAELKSDDWSYLVPMTELKPGNPASGHNYFLVNSQQRWTHIRLNIFPDG
GIARLRVFGTGQKDWTATDPKEPADLVAIAFGGVCVGFSNAKFGHPNNIIGVGGAKSMADGWETARRLDRPPILENDENG
ILLVPGCEWAVFRLAHPGVITRIEIDTKYFEGNAPDSRKVDGCILTTQEEEAVIRQKWILPAHKWKPLLPVTKLSPNQSH
LFDSLTLELQDVITHARLTIVPDGGVSRLRLRGFPSSICLLRPREKPMLKFSVSFKANP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000961945 CLINVAR
dbSNP (RS) rs6730396 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALLC CLINVAR
OMIM 612396 CLINVAR