Product Details

SNP ID

rs192535871

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:41028703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCACTCAGTCGAGAGGCATCGC[A/G]GCTCTCCAGGTATCGGTCCGACCCT

Phenotype

MIM: 616396

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SCMH1 PubMed Links

Gene Details

Gene

SCMH1

Gene Name

sex comb on midleg homolog 1 (Drosophila)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031694.2	1970	Missense Mutation	CGC,TGC	R580C	NP_001026864.1
NM_001172218.1	1970	Missense Mutation	CGC,TGC	R497C	NP_001165689.1
NM_001172219.1	1970	Missense Mutation	CGC,TGC	R568C	NP_001165690.1
NM_001172220.1	1970	Missense Mutation	CGC,TGC	R497C	NP_001165691.1
NM_001172221.1	1970	Missense Mutation	CGC,TGC	R519C	NP_001165692.1
NM_001172222.2	1970	Missense Mutation	CGC,TGC	R400C	NP_001165693.1
NM_012236.3	1970	Missense Mutation	CGC,TGC	R511C	NP_036368.1
XM_006710462.2	1970	Missense Mutation	CGC,TGC	R590C	XP_006710525.1
XM_006710464.1	1970	Missense Mutation	CGC,TGC	R519C	XP_006710527.1
XM_011541032.2	1970	Missense Mutation	CGC,TGC	R590C	XP_011539334.1
XM_011541033.2	1970	Missense Mutation	CGC,TGC	R580C	XP_011539335.1
XM_011541034.1	1970	Missense Mutation	CCG,CTG	P596L	XP_011539336.1
XM_011541035.2	1970	Missense Mutation	CGC,TGC	R533C	XP_011539337.1
XM_011541036.2	1970	Missense Mutation	CGC,TGC	R519C	XP_011539338.1
XM_011541039.1	1970	Missense Mutation	CGC,TGC	R470C	XP_011539341.1
XM_011541040.2	1970	Intron			XP_011539342.1
XM_011541043.2	1970	Missense Mutation	CGC,TGC	R412C	XP_011539345.1
XM_011541044.1	1970	Missense Mutation	CGC,TGC	R412C	XP_011539346.1
XM_011541045.2	1970	Missense Mutation	CGC,TGC	R489C	XP_011539347.2
XM_017000698.1	1970	Missense Mutation	CGC,TGC	R538C	XP_016856187.1
XM_017000699.1	1970	Missense Mutation	CGC,TGC	R519C	XP_016856188.1
XM_017000700.1	1970	Missense Mutation	CCG,CTG	P539L	XP_016856189.1
XM_017000701.1	1970	Missense Mutation	CGC,TGC	R479C	XP_016856190.1
XM_017000702.1	1970	Missense Mutation	CGC,TGC	R467C	XP_016856191.1
XM_017000703.1	1970	Missense Mutation	CGC,TGC	R467C	XP_016856192.1
XM_017000704.1	1970	Missense Mutation	CGC,TGC	R457C	XP_016856193.1
XM_017000705.1	1970	Missense Mutation	CGC,TGC	R422C	XP_016856194.1
XM_017000706.1	1970	Missense Mutation	CGC,TGC	R408C	XP_016856195.1
XM_017000707.1	1970	Missense Mutation	CGC,TGC	R400C	XP_016856196.1
XM_017000708.1	1970	Missense Mutation	CGC,TGC	R399C	XP_016856197.1
XM_017000709.1	1970	Missense Mutation	CGC,TGC	R390C	XP_016856198.1
XM_017000710.1	1970	Missense Mutation	CGC,TGC	R386C	XP_016856199.1
XM_017000711.1	1970	Missense Mutation	CGC,TGC	R377C	XP_016856200.1
XM_017000712.1	1970	Missense Mutation	CGC,TGC	R377C	XP_016856201.1
XM_017000713.1	1970	Missense Mutation	CGC,TGC	R369C	XP_016856202.1

Gene

SLFNL1

Gene Name

schlafen like 1

There are no transcripts associated with this gene.

Gene

SLFNL1-AS1

Gene Name

SLFNL1 antisense RNA 1

There are no transcripts associated with this gene.

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