Product Details

SNP ID

rs149053045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39407585 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGATAAGATTGTGTTACTTGTCA[C/T]AGACAAGGACTGGTCTGAAGAGATG

Phenotype

MIM: 609086 MIM: 604311

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FBXL20 PubMed Links

Gene Details

Gene

FBXL20

Gene Name

F-box and leucine rich repeat protein 20

There are no transcripts associated with this gene.

Gene

MED1

Gene Name

mediator complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004774.3	4781	Missense Mutation	ATG,GTG	M1546V	NP_004765.2
XM_005257465.3	4781	Missense Mutation	ATG,GTG	M1374V	XP_005257522.1
XM_006721957.1	4781	Intron			XP_006722020.1
XM_017024779.1	4781	Missense Mutation	ATG,GTG	M1327V	XP_016880268.1

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