RGD:151838641 Rat Genome Database

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Variant: RGD:151838641 -  Homo sapiens

RGD ID: 151838641
RS ID: rs1399039201
ClinVar ID: CV1344832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCNKB  LOC106501713  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 16,376,405
GRCh38 1 16,049,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001165945.2:c.455C>A
NM_000085.5:c.962C>A
NG_013079.1:g.11159C>A
NG_042865.1:g.5418C>A
More... 		09/10/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLCNKB
Accession:NM_000085
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW
LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL
DTSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG
TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETS
LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:CLCNKB
Accession:NM_001165945
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPCPPLLSVPVRAAGEQDRWVREEVTWGGGPTVTGGWGWRAHLRSVSPPGVLFSIEVMSSHFSVWDYWRGFFAATCGAFM
FRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLDTSKPVYSA
LATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMK
FWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAF
EVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVK
VVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFEL
LNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002015067 CLINVAR
dbSNP (RS) rs1399039201 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLCNKB CLINVAR
  LOC106501713 CLINVAR
OMIM 602023 CLINVAR