Product Details

SNP ID

rs200107563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:112779416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAGCAGCAGCAGCAGCAACAGCA[A/G]CTGGAGCAGCAGCTACCATGGTGGT

Phenotype

MIM: 300410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AMOT PubMed Links

Gene Details

Gene

AMOT

Gene Name

angiomotin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113490.1	2511	Missense Mutation	GCT,GTT	A913V	NP_001106962.1
NM_133265.2	2511	Missense Mutation	GCT,GTT	A504V	NP_573572.1
XM_005262087.1	2511	Missense Mutation	GCT,GTT	A913V	XP_005262144.1
XM_005262090.1	2511	Missense Mutation	GCT,GTT	A504V	XP_005262147.1
XM_011530875.2	2511	Missense Mutation	GCT,GTT	A913V	XP_011529177.1
XM_017029289.1	2511	Missense Mutation	GCT,GTT	A504V	XP_016884778.1

Gene

MIR4329

Gene Name

microRNA 4329

There are no transcripts associated with this gene.

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