Product Details

SNP ID

rs149995749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:160438337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCCATTCTTCTTTCAATATTT[A/T]GCTTACTCGAGGATAAATTTCAACG

Phenotype

MIM: 605575 MIM: 616148

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SMC4 PubMed Links

Gene Details

Gene

SMC4

Gene Name

structural maintenance of chromosomes 4

There are no transcripts associated with this gene.

Gene

TRIM59

Gene Name

tripartite motif containing 59

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173084.2	1042	Nonsense Mutation	AAA,TAA	K283*	NP_775107.1

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