Product Details

SNP ID

rs200781416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:231456742 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCTTCTTTAGCGTCTTCGAATG[A/G]AGCAAACTCTATAAATGCATACCTG

Phenotype

MIM: 164035 MIM: 604012 MIM: 611133

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NCL PubMed Links

Gene Details

Gene

NCL

Gene Name

nucleolin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005381.2	1735	Missense Mutation	CCA,TCA	P532S	NP_005372.2

Gene

SNORA75

Gene Name

small nucleolar RNA, H/ACA box 75

There are no transcripts associated with this gene.

Gene

SNORD20

Gene Name

small nucleolar RNA, C/D box 20

There are no transcripts associated with this gene.

Gene

SNORD82

Gene Name

small nucleolar RNA, C/D box 82

There are no transcripts associated with this gene.

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