Product Details

SNP ID

rs143316514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33578135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTATCTGAGTTTTTCATCTTTA[A/T]ATCTAAAAATCTAATCTGAAAATAG

Phenotype

MIM: 611428 MIM: 182465

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DONSON PubMed Links

Gene Details

Gene

DONSON

Gene Name

downstream neighbor of SON

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017613.3	1940	UTR 3			NP_060083.1

Gene

SON

Gene Name

SON DNA binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291411.1	1940	Intron			NP_001278340.1
NM_001291412.1	1940	Intron			NP_001278341.1
NM_032195.2	1940	Intron			NP_115571.2
NM_138927.2	1940	Intron			NP_620305.2

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