RGD:401750282 Rat Genome Database

RGD:401750282 Rat Genome Database

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Variant: RGD:401750282 - Homo sapiens

RGD ID:

401750282

ClinVar ID:

CV2737149

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	7	103,002,438
GRCh38	7	103,361,991

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_206884.3:c.1515-9065G>A NM_001321787.2:c.1946-9065G>A NM_206883.3:c.2042-9065G>A NM_001204453.1:c.325C>T More...	04/04/2023	intron variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	PSMC2
Accession:	NM_001204453
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDYLGADQRKTKEDEKDDKPIRALDEGDIALLKTYGQSTYSRQIKQVEDDIQQLLKKINELTGIKESDTGLAPPALWDL AADKQTLQSEQPLQVARCTKIINADSEDSKYIINVKQFAKFVVDLSDQVAPTDIEEGMRVG*

Gene Symbol:	PSMC2
Accession:	NM_002803
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDYLGADQRKTKEDEKDDKPIRALDEGDIALLKTYGQSTYSRQIKQVEDDIQQLLKKINELTGIKESDTGLAPPALWDL AADKQTLQSEQPLQVARCTKIINADSEDSKYIINVKQFAKFVVDLSDQVAPTDIEEGMRVGVDRNKYQIHIPLPPKIDPT VTMMQVEEKPDVTYSDVGGCKEQIEKLREVVETPLLHPERFVNLGIEPPKGVLLFGPPGTGKTLCARAVANRTDACFIRV IGSELVQKYVGEGARMVRELFEMARTKKACLIFFDEIDAIGGARFDDGAGGDNEVQRTMLELINQLDGFDPRGNIKVLMA TNRPDTLDPALMRPGRLDRKIEFSLPDLEGRTHIFKIHARSMSVERDIRFELLARLCPNSTGAEIRSVCTEAGMFAIRAR RKIATEKDFLEAVNKVIKSYAKFSATPRYMTYN*

Gene Symbol:	SLC26A5
Accession:	NM_001321787
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	XM_011516170
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NM_206883
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NM_001167962
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NM_206884
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	XM_047420347
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NM_198999
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NM_206885
Location:	INTRON

Gene Symbol:	SLC26A5
Accession:	NR_135801
Location:	INTRON;NON-CODING

Gene Symbol:	SLC26A5
Accession:	NR_135802
Location:	INTRON;NON-CODING

Gene Symbol:	SLC26A5
Accession:	NR_120443
Location:	INTRON;NON-CODING

Gene Symbol:	SLC26A5
Accession:	NR_120442
Location:	INTRON;NON-CODING

Gene Symbol:	SLC26A5
Accession:	NR_120441
Location:	INTRON;NON-CODING

Gene Symbol:	SLC26A5
Accession:	XR_007060034
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003314088	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	PSMC2	CLINVAR
	SLC26A5	CLINVAR
OMIM	154365	CLINVAR
	604943	CLINVAR