Product Details

SNP ID

rs200386941

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40742489 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTGGCCACAGAGGCCAGCCC[A/G]TACCCCACCCACGGGCACCACGTAC

Phenotype

MIM: 606476 MIM: 182285

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf54 PubMed Links

Gene Details

Gene

C19orf54

Gene Name

chromosome 19 open reading frame 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198476.3	1576	Missense Mutation	CGG,TGG	R334W	NP_940878.3
XM_005258776.4	1576	UTR 3			XP_005258833.1
XM_005258778.4	1576	Missense Mutation	CGG,TGG	R162W	XP_005258835.1
XM_006723152.2	1576	Intron			XP_006723215.1
XM_006723153.2	1576	Intron			XP_006723216.1
XM_011526774.2	1576	Intron			XP_011525076.1
XM_011526775.1	1576	Intron			XP_011525077.1
XM_011526776.2	1576	Intron			XP_011525078.1
XM_011526777.2	1576	Intron			XP_011525079.1
XM_011526778.2	1576	Intron			XP_011525080.1
XM_011526779.2	1576	Intron			XP_011525081.1
XM_011526782.2	1576	Intron			XP_011525084.1
XM_011526783.2	1576	Intron			XP_011525085.1
XM_011526784.2	1576	Intron			XP_011525086.1
XM_011526785.2	1576	Intron			XP_011525087.1
XM_011526786.2	1576	Intron			XP_011525088.1
XM_017026620.1	1576	Intron			XP_016882109.1
XM_017026621.1	1576	Intron			XP_016882110.1
XM_017026622.1	1576	Intron			XP_016882111.1
XM_017026623.1	1576	Intron			XP_016882112.1
XM_017026624.1	1576	Intron			XP_016882113.1
XM_017026625.1	1576	Intron			XP_016882114.1
XM_017026626.1	1576	Missense Mutation	CGG,TGG	R196W	XP_016882115.1
XM_017026627.1	1576	Missense Mutation	CGG,TGG	R162W	XP_016882116.1

Gene

ITPKC

Gene Name

inositol-trisphosphate 3-kinase C

There are no transcripts associated with this gene.

Gene

SNRPA

Gene Name

small nuclear ribonucleoprotein polypeptide A

There are no transcripts associated with this gene.

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