Product Details

SNP ID

rs75850792

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40740865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACAGAACATTCAGAGCCAATGTC[A/G]TAGAGCTTTTTATTTTGCATCTGGA

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	2284	UTR 3			NP_940878.3
XM_005258776.4	2284	UTR 3			XP_005258833.1
XM_005258778.4	2284	UTR 3			XP_005258835.1
XM_006723152.2	2284	Intron			XP_006723215.1
XM_006723153.2	2284	Intron			XP_006723216.1
XM_011526774.2	2284	UTR 3			XP_011525076.1
XM_011526775.1	2284	Intron			XP_011525077.1
XM_011526776.2	2284	UTR 3			XP_011525078.1
XM_011526777.2	2284	UTR 3			XP_011525079.1
XM_011526778.2	2284	UTR 3			XP_011525080.1
XM_011526779.2	2284	UTR 3			XP_011525081.1
XM_011526782.2	2284	Intron			XP_011525084.1
XM_011526783.2	2284	UTR 3			XP_011525085.1
XM_011526784.2	2284	UTR 3			XP_011525086.1
XM_011526785.2	2284	UTR 3			XP_011525087.1
XM_011526786.2	2284	Intron			XP_011525088.1
XM_017026620.1	2284	UTR 3			XP_016882109.1
XM_017026621.1	2284	UTR 3			XP_016882110.1
XM_017026622.1	2284	UTR 3			XP_016882111.1
XM_017026623.1	2284	UTR 3			XP_016882112.1
XM_017026624.1	2284	UTR 3			XP_016882113.1
XM_017026625.1	2284	Intron			XP_016882114.1
XM_017026626.1	2284	UTR 3			XP_016882115.1
XM_017026627.1	2284	UTR 3			XP_016882116.1

Gene

ITPKC

Gene Name

inositol-trisphosphate 3-kinase C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025194.2	2284	Intron			NP_079470.1
XM_017027324.1	2284	Intron			XP_016882813.1

Gene

SNRPA

Gene Name

small nuclear ribonucleoprotein polypeptide A

There are no transcripts associated with this gene.

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