Product Details

SNP ID

rs144324004

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:75919092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTAATAGTTCACATGGATCTTTGT[A/G]TCTTGTTGAAGGAATGTAATCAAAC

Phenotype

MIM: 602105

Polymorphism

A/G, Transition 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	888	Missense Mutation	CAC,TAC	H250Y	NP_543144.1
XM_006710345.3	888	Missense Mutation	CAC,TAC	H202Y	XP_006710408.1
XM_006710346.3	888	Missense Mutation	CAC,TAC	H172Y	XP_006710409.1

Gene

MSH4

Gene Name

mutS homolog 4

There are no transcripts associated with this gene.

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