RGD:152078034 Rat Genome Database

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Variant: RGD:152078034 -  Homo sapiens

RGD ID: 152078034
RS ID: rs749663302
ClinVar ID: CV1561091
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCNKB  LOC106501713  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 16,373,082
GRCh38 1 16,046,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000085.5:c.282C>T
NG_042865.1:g.2095C>T
NG_013079.1:g.7836C>T
NC_000001.11:g.16046587C>T
More... 		09/14/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CLCNKB
Accession:NM_000085
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW
LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL
ATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG
TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETS
LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:CLCNKB
Accession:NM_001165945
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002112373 CLINVAR
dbSNP (RS) rs749663302 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLCNKB CLINVAR
  LOC106501713 CLINVAR
OMIM 602023 CLINVAR