Product Details

SNP ID

rs61733913

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1482397 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCGCTGCACACACGCGCTGCTG[A/G]TCACCTGGGGGCCTGTAGGCCGCGC

Phenotype

MIM: 612034 MIM: 600487 MIM: 609346

Polymorphism

A/G, Transition 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	1439	Missense Mutation	ACC,ATC	T592I	NP_060043.2
XM_005259586.1	1439	Missense Mutation	ACC,ATC	T404I	XP_005259643.1
XM_011528085.2	1439	Missense Mutation	ACC,ATC	T619I	XP_011526387.1
XM_011528086.2	1439	Missense Mutation	ACC,ATC	T610I	XP_011526388.1
XM_011528087.2	1439	Intron			XP_011526389.1
XM_011528088.2	1439	Missense Mutation	ACC,ATC	T557I	XP_011526390.1
XM_011528089.2	1439	Missense Mutation	ACC,ATC	T525I	XP_011526391.1
XM_011528090.2	1439	Missense Mutation	ACC,ATC	T498I	XP_011526392.1
XM_011528091.2	1439	Missense Mutation	ACC,ATC	T495I	XP_011526393.1
XM_011528092.2	1439	Intron			XP_011526394.1
XM_011528093.2	1439	Silent Mutation	GAC,GAT	D577D	XP_011526395.1
XM_011528094.1	1439	Missense Mutation	ACC,ATC	T404I	XP_011526396.1
XM_011528095.2	1439	Intron			XP_011526397.1
XM_011528096.1	1439	Missense Mutation	ACC,ATC	T370I	XP_011526398.1
XM_017026897.1	1439	Silent Mutation	GAC,GAT	D362D	XP_016882386.1

Gene

REEP6

Gene Name

receptor accessory protein 6

There are no transcripts associated with this gene.

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