Product Details

SNP ID

rs192543787

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:8868249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGCCACGCGCCGCCAGCTCCGCT[A/G]CCTCCCGCTGCACCGCTCCCGGCCC

Phenotype

MIM: 142992

Polymorphism

A/G, Transition 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	694	Intron			NP_001293071.1
NM_018942.2	694	Missense Mutation	GCA,GTA	A164V	NP_061815.2

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