Product Details

SNP ID

rs150434057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1481904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGGAGGCTCAGCACCATGGCC[C/G]AGGCTGGGCAGCGGTGGTGGGGACA

Phenotype

MIM: 612034 MIM: 600487 MIM: 609346

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APC2 PubMed Links

Gene Details

Gene

APC2

Gene Name

APC2, WNT signaling pathway regulator

There are no transcripts associated with this gene.

Gene

C19orf25

Gene Name

chromosome 19 open reading frame 25

There are no transcripts associated with this gene.

Gene

PCSK4

Gene Name

proprotein convertase subtilisin/kexin type 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017573.4	1787	Missense Mutation	TCG,TGG	S708W	NP_060043.2
XM_005259586.1	1787	Missense Mutation	TCG,TGG	S520W	XP_005259643.1
XM_011528085.2	1787	Missense Mutation	TCG,TGG	S735W	XP_011526387.1
XM_011528086.2	1787	Missense Mutation	TCG,TGG	S726W	XP_011526388.1
XM_011528087.2	1787	Missense Mutation	TCG,TGG	S677W	XP_011526389.1
XM_011528088.2	1787	Missense Mutation	TCG,TGG	S673W	XP_011526390.1
XM_011528089.2	1787	Missense Mutation	TCG,TGG	S641W	XP_011526391.1
XM_011528090.2	1787	Missense Mutation	TCG,TGG	S614W	XP_011526392.1
XM_011528091.2	1787	Missense Mutation	TCG,TGG	S611W	XP_011526393.1
XM_011528092.2	1787	Intron			XP_011526394.1
XM_011528093.2	1787	UTR 3			XP_011526395.1
XM_011528094.1	1787	Missense Mutation	TCG,TGG	S520W	XP_011526396.1
XM_011528095.2	1787	Intron			XP_011526397.1
XM_011528096.1	1787	Missense Mutation	TCG,TGG	S486W	XP_011526398.1
XM_017026897.1	1787	Intron			XP_016882386.1

Gene

REEP6

Gene Name

receptor accessory protein 6

There are no transcripts associated with this gene.

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