Product Details

SNP ID

rs146423097

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40741867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCCCAGATGGGCTTTAAAACT[A/G]TGAAGACATGAGGTGGGGGAGGGGT

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	2198	UTR 3			NP_940878.3
XM_005258776.4	2198	UTR 3			XP_005258833.1
XM_005258778.4	2198	UTR 3			XP_005258835.1
XM_006723152.2	2198	Intron			XP_006723215.1
XM_006723153.2	2198	Intron			XP_006723216.1
XM_011526774.2	2198	Intron			XP_011525076.1
XM_011526775.1	2198	Intron			XP_011525077.1
XM_011526776.2	2198	Intron			XP_011525078.1
XM_011526777.2	2198	Intron			XP_011525079.1
XM_011526778.2	2198	Intron			XP_011525080.1
XM_011526779.2	2198	Intron			XP_011525081.1
XM_011526782.2	2198	Intron			XP_011525084.1
XM_011526783.2	2198	Intron			XP_011525085.1
XM_011526784.2	2198	Intron			XP_011525086.1
XM_011526785.2	2198	Intron			XP_011525087.1
XM_011526786.2	2198	Intron			XP_011525088.1
XM_017026620.1	2198	Intron			XP_016882109.1
XM_017026621.1	2198	Intron			XP_016882110.1
XM_017026622.1	2198	Intron			XP_016882111.1
XM_017026623.1	2198	Intron			XP_016882112.1
XM_017026624.1	2198	Intron			XP_016882113.1
XM_017026625.1	2198	Intron			XP_016882114.1
XM_017026626.1	2198	UTR 3			XP_016882115.1
XM_017026627.1	2198	UTR 3			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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