Product Details

SNP ID

rs199637969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40742541 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGGCCGTCAGTGGCCCGTGAGGG[C/T]GAGAAGTCCGTCAGCTGCAGGTTGC

Phenotype

MIM: 606476 MIM: 182285

Polymorphism

C/T, 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	971	Silent Mutation			NP_940878.3
XM_005258776.4	971	UTR 3			XP_005258833.1
XM_005258778.4	971	Silent Mutation			XP_005258835.1
XM_006723152.2	971	UTR 3			XP_006723215.1
XM_006723153.2	971	UTR 3			XP_006723216.1
XM_011526774.2	971	Silent Mutation			XP_011525076.1
XM_011526775.1	971	Silent Mutation			XP_011525077.1
XM_011526776.2	971	Intron			XP_011525078.1
XM_011526777.2	971	Silent Mutation			XP_011525079.1
XM_011526778.2	971	Intron			XP_011525080.1
XM_011526779.2	971	Intron			XP_011525081.1
XM_011526782.2	971	Intron			XP_011525084.1
XM_011526783.2	971	Intron			XP_011525085.1
XM_011526784.2	971	Silent Mutation			XP_011525086.1
XM_011526785.2	971	Silent Mutation			XP_011525087.1
XM_011526786.2	971	Intron			XP_011525088.1
XM_017026620.1	971	Intron			XP_016882109.1
XM_017026621.1	971	Silent Mutation			XP_016882110.1
XM_017026622.1	971	Intron			XP_016882111.1
XM_017026623.1	971	Intron			XP_016882112.1
XM_017026624.1	971	Silent Mutation			XP_016882113.1
XM_017026625.1	971	Intron			XP_016882114.1
XM_017026626.1	971	Silent Mutation			XP_016882115.1
XM_017026627.1	971	Silent Mutation			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.

View Full Product Details