RGD:156262767 Rat Genome Database

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RGD ID:

156262767

ClinVar ID:

CV2314911

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	74,702,138
GRCh38	2	74,475,011

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032779.4:c.1880T>C NM_001365575.2:c.1901T>C NC_000002.12:g.74475011A>G NC_000002.11:g.74702138A>G More...	11/07/2022	missense variant	likely benign	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	CCDC142
Accession:	NM_001365575
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	634

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQASRSGSLPPLVIVPPLRAQPGGTGEEQWERSRTGGLRWEVHCWPSGTSGGTPWWPTPADVSEDYEADAAAWRRGPAG GGPIPPALQRLRAVLLRLHREREQLLQARDCAYHLQSAVRLMKTLSPGSPSGGPSPLPQWCRDLQLHPSQGAVLRIGPGE TLEPLLLARPIGLAAQCLEAVIEMQLRALGREPASPGLSSQLAELLFALPAYHTLQRKALSHVPGAARPFPTSRVLRLLT GERGCQVASRLDEALQGSALRDQLRRRCQEEGDLLPGLLGLVGGVAGSASCGLGLGGAGALWSQYWTLLWAACAQSLDLN LGPWRDPRATAQQLSQALGQASLPQECEKELASLCHRLLHQSLIWSWDQGFCQALGSALGGQSSLPTSSGTAELLQQLFP PLLDALREPRLRRIFCQPADPAPVALGLCTLQTTLLWFLGRAQQYLAAWDPASFLLLIQKDLPPLLHEAEALYSLASEES LALEVEQQLGLEIQKLTAQIQLLPEESLSVFSQECHKQAMQGFKLYMPRGRYWRLRLCPEPPSAPSEYAGLVVRTVLEPV LQGLQGLPPQAQAPALGQALTAIVGAWLDHILTHGIRFSLQGALQLKQDFGVVRELLEEEQWSLSPDLRQTLLTLSIFQQ LDGALLCLLQQPLPKSQVHRRPPCCCACQEVQTTKLPSSCLNSLESLEPPLQPGTSPAQTGQLQSTLGGRGPSPEGYLVG NQQAWLALRQHQRPRWHLPFFSCLGTSPES*

Gene Symbol:	CCDC142
Accession:	NM_032779
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	627

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQASRSGSLPPLVIVPPLRAQPGGTGEEQWERSRTGGLRWEVHCWPSGTSGGTPWWPTPADVSEDYEADAAAWRRGPAG GGPIPPALQRLRAVLLRLHREREQLLQARDCAYHLQSAVRLMKTLSPGSPSGGPSPLPQWCRDLQLHPSQGAVLRIGPGE TLEPLLLARPIGLAAQCLEAVIEMQLRALGREPASPGLSSQLAELLFALPAYHTLQRKALSHVPGAARPFPTSRVLRLLT GERGCQVASRLDEALQGSALRDQLRRRCQEEGDLLPGLLGLVGGVAGSASCGLGLGGAGALWSQYWTLLWAACAQSLDLN LGPWRDPRATAQQLSQALGQASLPQECEKELASLCHRLLHQSLIWSWDQGFCQALGSALGGQSSLPTSSGTAELLQQLFP PLLDALREPRLRRIFCQPAGLCTLQTTLLWFLGRAQQYLAAWDPASFLLLIQKDLPPLLHEAEALYSLASEESLALEVEQ QLGLEIQKLTAQIQLLPEESLSVFSQECHKQAMQGFKLYMPRGRYWRLRLCPEPPSAPSEYAGLVVRTVLEPVLQGLQGL PPQAQAPALGQALTAIVGAWLDHILTHGIRFSLQGALQLKQDFGVVRELLEEEQWSLSPDLRQTLLTLSIFQQLDGALLC LLQQPLPKSQVHRRPPCCCACQEVQTTKLPSSCLNSLESLEPPLQPGTSPAQTGQLQSTLGGRGPSPEGYLVGNQQAWLA LRQHQRPRWHLPFFSCLGTSPES*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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