Product Details

SNP ID

rs77599274

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40741549 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTTCCTCCTTCAGAGTGGAGGG[A/G]TCAGGTATTCATGAAGCTAGTAATC

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	1600	UTR 3			NP_940878.3
XM_005258776.4	1600	UTR 3			XP_005258833.1
XM_005258778.4	1600	UTR 3			XP_005258835.1
XM_006723152.2	1600	Intron			XP_006723215.1
XM_006723153.2	1600	Intron			XP_006723216.1
XM_011526774.2	1600	UTR 3			XP_011525076.1
XM_011526775.1	1600	Intron			XP_011525077.1
XM_011526776.2	1600	UTR 3			XP_011525078.1
XM_011526777.2	1600	UTR 3			XP_011525079.1
XM_011526778.2	1600	UTR 3			XP_011525080.1
XM_011526779.2	1600	Intron			XP_011525081.1
XM_011526782.2	1600	Intron			XP_011525084.1
XM_011526783.2	1600	UTR 3			XP_011525085.1
XM_011526784.2	1600	UTR 3			XP_011525086.1
XM_011526785.2	1600	UTR 3			XP_011525087.1
XM_011526786.2	1600	Intron			XP_011525088.1
XM_017026620.1	1600	Intron			XP_016882109.1
XM_017026621.1	1600	Intron			XP_016882110.1
XM_017026622.1	1600	Intron			XP_016882111.1
XM_017026623.1	1600	UTR 3			XP_016882112.1
XM_017026624.1	1600	Intron			XP_016882113.1
XM_017026625.1	1600	Intron			XP_016882114.1
XM_017026626.1	1600	UTR 3			XP_016882115.1
XM_017026627.1	1600	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	1600	Intron			NP_079470.1
XM_017027324.1	1600	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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