Product Details

SNP ID

rs150504436

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30709679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCAGGCTCTTCCCCTTGCCTCG[G/T]CTCTTCCTCAGCTGCCTCCAGTCCT

Phenotype

MIM: 611421

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SNORA30 PubMed Links

Gene Details

Gene

SNORA30

Gene Name

small nucleolar RNA, H/ACA box 30

There are no transcripts associated with this gene.

Gene

SRCAP

Gene Name

Snf2-related CREBBP activator protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006662.2	1185	Missense Mutation	GGC,GTC	G267V	NP_006653.2

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