Product Details

SNP ID

rs139309886

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:130133458 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGTTTTCATTGACCAGGTGCCC[A/G]GGAAGAACCCACCGTCCAGCAGGCA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

L3MBTL3 PubMed Links

Gene Details

Gene

L3MBTL3

Gene Name

l(3)mbt-like 3 (Drosophila)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007102.2	2132	Missense Mutation	CAG,CGG	Q633R	NP_001007103.1
NM_032438.2	2132	Missense Mutation	CAG,CGG	Q658R	NP_115814.1
XM_005267161.4	2132	Missense Mutation	CAG,CGG	Q658R	XP_005267218.1
XM_006715576.3	2132	Missense Mutation	CAG,CGG	Q693R	XP_006715639.1
XM_006715578.3	2132	Missense Mutation	CAG,CGG	Q658R	XP_006715641.1
XM_011536179.2	2132	Missense Mutation	CAG,CGG	Q658R	XP_011534481.1
XM_011536180.2	2132	Missense Mutation	CAG,CGG	Q658R	XP_011534482.1
XM_011536181.2	2132	Missense Mutation	CAG,CGG	Q658R	XP_011534483.1
XM_011536183.2	2132	Missense Mutation	CAG,CGG	Q658R	XP_011534485.1
XM_011536184.2	2132	Missense Mutation	CAG,CGG	Q658R	XP_011534486.1
XM_017011355.1	2132	Missense Mutation	CAG,CGG	Q633R	XP_016866844.1
XM_017011356.1	2132	Missense Mutation	CAG,CGG	Q633R	XP_016866845.1

Gene

SAMD3

Gene Name

sterile alpha motif domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017373.3	2132	Intron			NP_001017373.2
NM_001258275.2	2132	Intron			NP_001245204.1
NM_001277185.1	2132	Intron			NP_001264114.1
XM_017010305.1	2132	Intron			XP_016865794.1
XM_017010306.1	2132	Intron			XP_016865795.1
XM_017010307.1	2132	Intron			XP_016865796.1
XM_017010308.1	2132	Intron			XP_016865797.1
XM_017010309.1	2132	Intron			XP_016865798.1
XM_017010310.1	2132	Intron			XP_016865799.1

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