Product Details

SNP ID

rs181991427

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:75919066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTCCTGATGGTTAGTCTGCAAAG[A/T]TGTAATAGTTCACATGGATCTTTGT

Phenotype

MIM: 602105

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ASB17 PubMed Links

Gene Details

Gene

ASB17

Gene Name

ankyrin repeat and SOCS box containing 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080868.2	914	Missense Mutation	CAA,CAT	Q258H	NP_543144.1
XM_006710345.3	914	Missense Mutation	CAA,CAT	Q210H	XP_006710408.1
XM_006710346.3	914	Missense Mutation	CAA,CAT	Q180H	XP_006710409.1

Gene

MSH4

Gene Name

mutS homolog 4

There are no transcripts associated with this gene.

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