Product Details

SNP ID

rs76610737

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:231455224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTCGTCTTCTTTCCTTGTGGCTT[G/T]TGGTCACCTCCTCCTCCTCTGCCTC

Phenotype

MIM: 164035 MIM: 604012 MIM: 611133

Polymorphism

G/T, Transversion 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	2241	Missense Mutation	CAA,CAC	Q700H	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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