Product Details

SNP ID: rs151054640
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:45100360 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCTCCTCAGCCACCGCTTTGCGCA[C/T]CTTGTCCTTGAGGTAGGCGCCTTTC
Phenotype: MIM: 611335 MIM: 611325
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: SNORA5A PubMed Links

Gene Details

Gene: SNORA5A
Gene Name: small nucleolar RNA, H/ACA box 5A

There are no transcripts associated with this gene.

Gene: SNORA5B
Gene Name: small nucleolar RNA, H/ACA box 5B

There are no transcripts associated with this gene.

Gene: SNORA5C
Gene Name: small nucleolar RNA, H/ACA box 5C

There are no transcripts associated with this gene.

Gene: TBRG4
Gene Name: transforming growth factor beta regulator 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261834.1	1686	Missense Mutation			NP_001248763.1
NM_004749.3	1686	Missense Mutation			NP_004740.2
NM_030900.3	1686	Missense Mutation			NP_112162.1
NM_199122.2	1686	Missense Mutation			NP_954573.1

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