RGD:407516636 Rat Genome Database

RGD:407516636 Rat Genome Database

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Variant: RGD:407516636 - Homo sapiens

RGD ID:

407516636

ClinVar ID:

CV3474776

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129998765 SRI SRI-AS1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	7	87,849,308
GRCh38	7	88,219,993

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_414t1:c.34G>A NM_001256891.2:c.34G>A NM_003130.4:c.34G>A NM_001256892.2:c.7-1051G>A More...	04/24/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SRI
Accession:	NM_003130
Location:	EXON
Amino Acid Prediction:	G to W (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYPGHPGAGGWYYPGGYGGAPGGPAFPGQTQDPLYGYFAAVAGQDGQIDADELQRCLTQSGIAGGYKPFNLETCRLMVS MLDRDMSGTMGFNEFKELWAVLNGWRQHFISFDTDRSGTVDPQELQKALTTMGFRLSPQAVNSIAKRYSTNGKITFDDYI ACCVKLRALTDSFRRRDTAQQGVVNFPYDDFIQCVMSV*

Gene Symbol:	SRI
Accession:	NM_001256891
Location:	EXON
Amino Acid Prediction:	G to W (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYPGHPGAGGWYYPGGYGGAPGGPAFPGQTQDPLYGYFAAVAGQDGQIDADELQRCLTQSGIAGGYKPFNLETCRLMVS MLDRDMSGTMGFNEFKELWAVLNGWRQHFISFDTDRSGTVDPQELQKALTTMGFRLSPQAVNSIAKRYSTNGKITFDDYI ACCVKLRALTDSFRRRDTAQQGVVNFPYDDVSLRN*

Gene Symbol:	SRI
Accession:	NM_198901
Location:	INTRON

Gene Symbol:	SRI
Accession:	NM_001256892
Location:	INTRON

Gene Symbol:	SRI-AS1
Accession:	NR_120517
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004675360	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LOC129998765	CLINVAR
	SRI	CLINVAR
	SRI-AS1	CLINVAR
OMIM	182520	CLINVAR