Product Details

SNP ID

rs138882886

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41921574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTTCGAGAAAAATGCCCAAATT[C/T]AAGGCGGCCCGTGGGGTGGGGGGTC

Phenotype

MIM: 603871 MIM: 612915

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BYSL PubMed Links

Gene Details

Gene

BYSL

Gene Name

bystin like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004053.3	348	Silent Mutation	TTC,TTT	F4F	NP_004044.3

Gene

MED20

Gene Name

mediator complex subunit 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001305455.1	348	Intron			NP_001292384.1
NM_001305456.1	348	Intron			NP_001292385.1
NM_001305457.1	348	Intron			NP_001292386.1
NM_004275.4	348	Intron			NP_004266.2

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