Product Details

SNP ID

rs3745213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40742104 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTAAGGAGGGGTGAGCTGAGGCTGA[C/T]GCAGTTCAGTGTCCCTGTCCTGTGA

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	1083	UTR 3			NP_940878.3
XM_005258776.4	1083	UTR 3			XP_005258833.1
XM_005258778.4	1083	UTR 3			XP_005258835.1
XM_006723152.2	1083	UTR 3			XP_006723215.1
XM_006723153.2	1083	Intron			XP_006723216.1
XM_011526774.2	1083	Missense Mutation	ATC,GTC	I354V	XP_011525076.1
XM_011526775.1	1083	Missense Mutation	ATC,GTC	I354V	XP_011525077.1
XM_011526776.2	1083	Missense Mutation	ATC,GTC	I330V	XP_011525078.1
XM_011526777.2	1083	Intron			XP_011525079.1
XM_011526778.2	1083	Intron			XP_011525080.1
XM_011526779.2	1083	Intron			XP_011525081.1
XM_011526782.2	1083	Intron			XP_011525084.1
XM_011526783.2	1083	Missense Mutation	ATC,GTC	I224V	XP_011525085.1
XM_011526784.2	1083	Missense Mutation	ATC,GTC	I216V	XP_011525086.1
XM_011526785.2	1083	Missense Mutation	ATC,GTC	I182V	XP_011525087.1
XM_011526786.2	1083	UTR 3			XP_011525088.1
XM_017026620.1	1083	Missense Mutation	ATC,GTC	I330V	XP_016882109.1
XM_017026621.1	1083	Intron			XP_016882110.1
XM_017026622.1	1083	Intron			XP_016882111.1
XM_017026623.1	1083	Intron			XP_016882112.1
XM_017026624.1	1083	Intron			XP_016882113.1
XM_017026625.1	1083	Intron			XP_016882114.1
XM_017026626.1	1083	UTR 3			XP_016882115.1
XM_017026627.1	1083	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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