Product Details

SNP ID

rs143607052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:2232082 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAAAGTTTTTCTTTTTGTCTTCA[C/T]ATCAGCAAGAATATCAGTGAGGAGA

Phenotype

MIM: 613430 MIM: 610887

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HAUS3 PubMed Links

Gene Details

Gene

HAUS3

Gene Name

HAUS augmin like complex subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303143.1	2189	Missense Mutation	ATG,GTG	M553V	NP_001290072.1
NM_024511.6	2189	Missense Mutation	ATG,GTG	M553V	NP_078787.2

Gene

POLN

Gene Name

DNA polymerase nu

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181808.3	2189	Intron			NP_861524.2

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