Product Details

SNP ID

rs147407921

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:43514626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCGCAATCCTCAGACCCTCCC[A/G]CGCTCCAGTTCCGGATAAGCGAGTA

Phenotype

MIM: 608802

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

L3MBTL1 PubMed Links

Gene Details

Gene

L3MBTL1

Gene Name

l(3)mbt-like 1 (Drosophila)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015478.6	191	Missense Mutation	ACG,GCG	T28A	NP_056293.4
NM_032107.4	191	Intron			NP_115479.4

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