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SNP ID

rs139663398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:47077444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATATAGGCACAAATTAAGTGGAC[A/G]CCACAAAAGGTGTGTCAGAAAACAC

Phenotype

MIM: 615690

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AMIGO2 PubMed Links

Gene Details

Gene

AMIGO2

Gene Name

adhesion molecule with Ig like domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143668.1	2112	Missense Mutation	GCG,GTG	A520V	NP_001137140.1
NM_181847.4	2112	Missense Mutation	GCG,GTG	A520V	NP_862830.1
XM_005268837.3	2112	Missense Mutation	GCG,GTG	A520V	XP_005268894.1

Gene

PCED1B

Gene Name

PC-esterase domain containing 1B

There are no transcripts associated with this gene.

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