Product Details

SNP ID

rs141237312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33578422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTTAGGGTGCAAACCACAGTTA[A/G]TAAGCTCCTTATGAACAACCTCCTG

Phenotype

MIM: 611428 MIM: 182465

Polymorphism

A/G, Transition 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	1653	Missense Mutation	ACT,ATT	T529I	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	1653	Intron			NP_001278340.1
NM_001291412.1	1653	Intron			NP_001278341.1
NM_032195.2	1653	Intron			NP_115571.2
NM_138927.2	1653	Intron			NP_620305.2

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