Product Details

SNP ID

rs28936072

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154765472 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACAACACGCTGAAGAATTTCTTA[C/T]CAAACCTGAATCCAAAGTTGCTAAG

Phenotype

MIM: 300126

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DKC1 PubMed Links

Gene Details

Gene

DKC1

Gene Name

dyskerin pseudouridine synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142463.2	337	Missense Mutation			NP_001135935.1
NM_001288747.1	337	Missense Mutation			NP_001275676.1
NM_001363.4	337	Missense Mutation			NP_001354.1

Gene

MIR664B

Gene Name

microRNA 664b

There are no transcripts associated with this gene.

Gene

SNORA36A

Gene Name

small nucleolar RNA, H/ACA box 36A

There are no transcripts associated with this gene.

Gene

SNORA56

Gene Name

small nucleolar RNA, H/ACA box 56

There are no transcripts associated with this gene.

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