Product Details

SNP ID

rs1455434

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40751141 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGCCAATGGGAATCGCCATTTAG[G/T]GTGCTCCGCCCACCGGGTCGCGTAG

Phenotype

MIM: 182285

Polymorphism

G/T, Transversion 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	288	Intron			NP_940878.3
XM_005258776.4	288	Intron			XP_005258833.1
XM_005258778.4	288	Intron			XP_005258835.1
XM_006723152.2	288	Intron			XP_006723215.1
XM_006723153.2	288	Intron			XP_006723216.1
XM_011526774.2	288	Intron			XP_011525076.1
XM_011526775.1	288	Intron			XP_011525077.1
XM_011526776.2	288	Intron			XP_011525078.1
XM_011526777.2	288	Intron			XP_011525079.1
XM_011526778.2	288	Intron			XP_011525080.1
XM_011526779.2	288	Intron			XP_011525081.1
XM_011526782.2	288	Intron			XP_011525084.1
XM_011526783.2	288	Intron			XP_011525085.1
XM_011526784.2	288	Intron			XP_011525086.1
XM_011526785.2	288	Intron			XP_011525087.1
XM_011526786.2	288	Intron			XP_011525088.1
XM_017026620.1	288	Intron			XP_016882109.1
XM_017026621.1	288	Intron			XP_016882110.1
XM_017026622.1	288	Intron			XP_016882111.1
XM_017026623.1	288	Intron			XP_016882112.1
XM_017026624.1	288	Intron			XP_016882113.1
XM_017026625.1	288	Intron			XP_016882114.1
XM_017026626.1	288	Intron			XP_016882115.1
XM_017026627.1	288	Intron			XP_016882116.1

Gene

SNRPA

Gene Name

small nuclear ribonucleoprotein polypeptide A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004596.4	288	UTR 5			NP_004587.1

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