Product Details

SNP ID

rs114544630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1481788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCAGCTGGCAGCCAGACCTGGG[C/G]TTTGGTGGGGGTGGCCCTGGCACGG

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	1903	Missense Mutation	CCC,GCC	P747A	NP_060043.2
XM_005259586.1	1903	Missense Mutation	CCC,GCC	P559A	XP_005259643.1
XM_011528085.2	1903	Missense Mutation	CCC,GCC	P774A	XP_011526387.1
XM_011528086.2	1903	Missense Mutation	CCC,GCC	P765A	XP_011526388.1
XM_011528087.2	1903	Missense Mutation	CCC,GCC	P716A	XP_011526389.1
XM_011528088.2	1903	Missense Mutation	CCC,GCC	P712A	XP_011526390.1
XM_011528089.2	1903	Missense Mutation	CCC,GCC	P680A	XP_011526391.1
XM_011528090.2	1903	Missense Mutation	CCC,GCC	P653A	XP_011526392.1
XM_011528091.2	1903	Missense Mutation	CCC,GCC	P650A	XP_011526393.1
XM_011528092.2	1903	Intron			XP_011526394.1
XM_011528093.2	1903	UTR 3			XP_011526395.1
XM_011528094.1	1903	Missense Mutation	CCC,GCC	P559A	XP_011526396.1
XM_011528095.2	1903	Intron			XP_011526397.1
XM_011528096.1	1903	Missense Mutation	CCC,GCC	P525A	XP_011526398.1
XM_017026897.1	1903	Intron			XP_016882386.1

Gene

REEP6

Gene Name

receptor accessory protein 6

There are no transcripts associated with this gene.

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