RGD:401721502 Rat Genome Database

RGD:401721502 Rat Genome Database

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Variant: RGD:401721502 - Homo sapiens

RGD ID:

401721502

ClinVar ID:

CV2709992

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	3,387,688
GRCh38	12	3,278,522

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006675.5:c.165C>A NC_000012.12:g.3278522C>A NC_000012.11:g.3387688C>A NM_006675.4:c.165C>A More...	05/15/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	TSPAN9
Accession:	XM_011520912
Location:	5UTRS;EXON

Gene Symbol:	TSPAN9
Accession:	XM_047428128
Location:	5UTRS;EXON

Gene Symbol:	TSPAN9
Accession:	XM_047428127
Location:	5UTRS;EXON

Gene Symbol:	TSPAN9
Accession:	XM_047428130
Location:	5UTRS;EXON

Gene Symbol:	TSPAN9
Accession:	XM_047428129
Location:	5UTRS;EXON

Gene Symbol:	TSPAN9
Accession:	NM_006675
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAAKLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	NM_001168320
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAAKLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428125
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAAKLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428126
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAAKLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428124
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKSSSEDSSIHRSPSLDSKDSDFAKPSTSGRPFGRGFTAGAFYGTAGSRGQSRAEAGVKTDKCNAPKGSKYVVFYLDLS FVFLLEFKKCNMARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAAKLVIAIGTIVMVTGF LGCLGAIKENKCLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCG VTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQH IHRTGKKYDA*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004315058	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	TSPAN9	CLINVAR
OMIM	613137	CLINVAR