Product Details

SNP ID

rs5965494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:68047867 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCAAATGAAATAATGAATGTGAAA[C/G]TGCTTTGCATTGGACAAACATAAAG

Phenotype

MIM: 300127

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

OPHN1 PubMed Links

Gene Details

Gene

OPHN1

Gene Name

oligophrenin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002547.2		Intron			NP_002538.1
XM_005262270.1		Intron			XP_005262327.1
XM_006724653.2		Intron			XP_006724716.1
XM_011530961.1		Intron			XP_011529263.1
XM_017029555.1		Intron			XP_016885044.1

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