RGD:401728197 Rat Genome Database

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Variant: RGD:401728197 -  Homo sapiens

RGD ID: 401728197
ClinVar ID: CV2676004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL359924.1  ZP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 238,050,086
GRCh38 1 237,886,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_021186.5:c.824G>A
NG_046920.1:g.9137G>A
NC_000001.11:g.237886786C>T
NC_000001.10:g.238050086C>T
More...
03/31/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:ZP4
Accession:NM_021186
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLLRCVLLCVSLSLAVSGQHKPEAPDYSSVLHCGPWSFQFAVNLNQEATSPPVLIAWDNQGLLHELQNDSDCGTWIRKG
PGSSVVLEATYSSCYVTEWDSHYIMPVGVEGAGAAEHKVVTERKLLKCPMDLLARDAPDTDWCDSIPARDRLPCAPSPIS
RGDCEGLGCCYSSEEVNSCYYGNTVTLHCTREGHFSIAVSRNVTSPPLLLDSVRLALRNDSACNPVMATQAFVLFQFPFT
SCGTTRQITGDRAVYENELVATRDVKNGSRGSVTHDSIFRLHVSCSYSVSSNSLPINVQVFTLPPPFPETQPGPLTLELQ
IAKDKNYGSYYGVGDYPVVKLLRDPIYVEVSILHRTDPYLGLLLQQCWATPSTDPLSQPQWPILVKGCPYIGDNYQTQLI
PVQKALDLPFPSHHQRFSIFTFSFVNPTVEKQALRGPVHLHCSVSVCQPAETPSCVVTCPDLSRRRNFDNSSQNTTASVS
SKGPMILLQATKDPPEKLRVPVDSKVLWVAGLSGTLILGALLVSYLAVKKQKSCPDQMCQ*

Gene Symbol:AL359924.1
Accession:NR_027247
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004281994 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZP4 CLINVAR
OMIM 613514 CLINVAR