Product Details

SNP ID: rs1042969
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:45101900 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCCCAGCAGCCCCTTCAGCGTCT[C/T]CTGCAGCTCCTTTTGCAGGGGGGTC
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	1317	Missense Mutation	AAG,GAG	K509E	NP_001248763.1
NM_004749.3	1317	Missense Mutation	AAG,GAG	K498E	NP_004740.2
NM_030900.3	1317	Missense Mutation	AAG,GAG	K388E	NP_112162.1
NM_199122.2	1317	Missense Mutation	AAG,GAG	K388E	NP_954573.1

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