Product Details

SNP ID

rs142087432

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:8871494 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTCCTCCTCCTCGTCCTCCCGGC[A/T]GCCGTCGCCCTGGGTCGCGCGCCCT

Phenotype

MIM: 142992

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HMX1 PubMed Links

Gene Details

Gene

HMX1

Gene Name

H6 family homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306142.1	324	Missense Mutation	AGC,TGC	S41C	NP_001293071.1
NM_018942.2	324	Missense Mutation	AGC,TGC	S41C	NP_061815.2

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