RGD:11630478 Rat Genome Database

RGD:11630478 Rat Genome Database

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Variant: RGD:11630478 - Homo sapiens

RGD ID:

11630478

ClinVar ID:

CV352525

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NCF4

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	37,273,779
GRCh38	22	36,877,737

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_159t1:c.132G>T NM_013416.3:c.132G>T LRG_159:g.21750G>T NG_023400.1:g.21750G>T More...	06/14/2016	3 prime utr variant	uncertain significance

Variant Details

Variant Transcripts

Gene Symbol:	NCF4
Accession:	NM_013416
Location:	3UTRS;EXON

Gene Symbol:	NCF4
Accession:	NM_000631
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARCLPSQKRLF PWKLHITQKDNYRVYNTMP*

Gene Symbol:	NCF4
Accession:	XM_047441385
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIYYFFLNVGSPMRSKLHEAVSVLIAAVSLGDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAISANIADIEEK RGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAY MKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFK AGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLE LTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARCLPSQKRLFPWKLHITQKDNYRVYNTMP*

Gene Symbol:	NCF4
Accession:	XM_047441384
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	370

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGAPCTSKVLSESEPGLFCLRSKQRVQGEGAGSRSGDFLEPQDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAI SANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIA EMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFT GNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLS STPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARCLPSQKRLFPWKLHITQKDNYRVYNTMP*

Variant Samples