RGD:8637820 Rat Genome Database

RGD:8637820 Rat Genome Database

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Variant: RGD:8637820 - Homo sapiens

RGD ID:

8637820

ClinVar ID:

CV93046

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126863217 SCML1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	X	17,768,227
GRCh38	X	17,750,107

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
NC_000023.11:g.17750107C>T NC_000023.10:g.17768227C>T NP_006737.2:p.Pro146Ser NP_001032629.1:p.Pro173Ser More...		missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	SCML1
Accession:	XM_005274579
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRYGYKK HSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFS EHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLK QTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	NM_001037536
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGA TYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDL FRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_017029723
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVQEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRYGYK KHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDF SEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFL KQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_047442349
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGA TYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDL FRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	NM_001037540
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	173

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKID VIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFC MEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPV ENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDR LKQGKCFEN*

Gene Symbol:	SCML1
Accession:	NM_006746
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVQEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRYGYK KHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDF SEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFL KQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	NM_001037535
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGA TYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDL FRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_005274578
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKQEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKI DVIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSF CMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSP VENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYID RLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_006724509
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRYGYKK HSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFS EHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLK QTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_047442348
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKQEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKI DVIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSF CMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSP VENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYID RLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_011545564
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKQEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKI DVIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSF CMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSP VENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYID RLKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_006724508
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	173

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKEPNIVSDASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKID VIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFC MEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPV ENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDR LKQGKCFEN*

Gene Symbol:	SCML1
Accession:	XM_047442350
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDSILSRTPSPVHPSDFSEHNCQPYYASDGA TYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDL FRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN*

Variant Samples