Product Details

SNP ID: rs200532259
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:101412957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGAGAGTACATATTGAAATTGGACC[C/T]GATGGCAGAGTTACCGGTGAGGCAG
Phenotype: MIM: 300644 MIM: 300610
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ARMCX4 PubMed Links

Gene Details

Gene: ARMCX4
Gene Name: armadillo repeat containing, X-linked 4

There are no transcripts associated with this gene.

Gene: GLA
Gene Name: galactosidase alpha

There are no transcripts associated with this gene.

Gene: HNRNPH2
Gene Name: heterogeneous nuclear ribonucleoprotein H2 (H')

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032393.2	1353	Intron			NP_001027565.1
NM_019597.4	1353	Intron			NP_062543.1

Gene: RPL36A-HNRNPH2
Gene Name: RPL36A-HNRNPH2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199973.1	1353	UTR 3			NP_001186902.1
NM_001199974.1	1353	UTR 3			NP_001186903.1

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