Product Details

SNP ID

rs201129497

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:220880002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCCCTCCTTCTGCATCGCAGAC[A/G]TTCTGCACGCCGGCGTGGGGGATCT

Phenotype

MIM: 142995

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HLX PubMed Links

Gene Details

Gene

HLX

Gene Name

H2.0 like homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021958.3	602	Missense Mutation	ATT,GTT	I49V	NP_068777.1

Gene

HLX-AS1

Gene Name

HLX antisense RNA 1

There are no transcripts associated with this gene.

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