RGD:405798948 Rat Genome Database

RGD:405798948 Rat Genome Database

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Variant: RGD:405798948 - Homo sapiens

RGD ID:

405798948

ClinVar ID:

CV3340927

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	12	3,388,162
GRCh38	12	3,278,996

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001168320.2:c.260T>G NM_006675.5:c.260T>G NC_000012.12:g.3278996T>G NC_000012.11:g.3388162T>G More...	01/23/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	TSPAN9
Accession:	NM_006675
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	NM_001168320
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_011520912
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTGFLGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAE MRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSM TLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428125
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428128
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTGFLGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAE MRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSM TLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428127
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTGFLGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAE MRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSM TLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428126
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENK CLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVL GENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428124
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	178

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKSSSEDSSIHRSPSLDSKDSDFAKPSTSGRPFGRGFTAGAFYGTAGSRGQSRAEAGVKTDKCNAPKGSKYVVFYLDLS FVFLLEFKKCNMARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGF LGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCG VTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQH IHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428130
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTGFLGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAE MRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSM TLFQHIHRTGKKYDA*

Gene Symbol:	TSPAN9
Accession:	XM_047428129
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTGFLGCLGAIKENKCLLLSFCIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAE MRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSM TLFQHIHRTGKKYDA*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004476672	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	TSPAN9	CLINVAR
OMIM	613137	CLINVAR