Product Details

SNP ID

rs61745347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:8871251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACTGAGGCCGCCTCCATAGCCAC[C/T]GTGCGCCCGTGGGTACCAGCGCGCT

Phenotype

MIM: 142992

Polymorphism

C/T, 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	567	Missense Mutation	AGT,GGT	S122G	NP_001293071.1
NM_018942.2	567	Missense Mutation	AGT,GGT	S122G	NP_061815.2

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