Product Details

SNP ID: rs121912301
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:154765929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAGAATTTTGATAAGCTGAATGTAA[C/G]GACAACACACTATACACCTCTTGCA
Phenotype: MIM: 300126
Polymorphism: C/G, Transversion 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	418	Missense Mutation	ACG,AGG	T65R	NP_001135935.1
NM_001288747.1	418	Missense Mutation	ACG,AGG	T65R	NP_001275676.1
NM_001363.4	418	Missense Mutation	ACG,AGG	T65R	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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