Product Details

SNP ID

rs17857202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:43514690 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGGCGGGAGTGGAGCAGCCCCCGA[C/G]CCCCGAGCTGCGGCAGGAAGGCGTG

Phenotype

MIM: 608802

Polymorphism

C/G, Transversion 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	255	Missense Mutation	ACC,AGC	T49S	NP_056293.4
NM_032107.4	255	Missense Mutation	ACC,AGC	T117S	NP_115479.4

View Full Product Details