Product Details

SNP ID

rs200054978

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:43514628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCGCAATCCTCAGACCCTCCCGC[A/G]CTCCAGTTCCGGATAAGCGAGTATA

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	193	Silent Mutation	GCA,GCG	A28A	NP_056293.4
NM_032107.4	193	Intron			NP_115479.4

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