Product Details

SNP ID

rs147515596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73313115 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTCGGCATCGAAGAAGGTGAGTT[A/C]GCCCTGCTCATAGTGCAGGTAGAGC

Phenotype

MIM: 615732 MIM: 612548

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NSUN5 PubMed Links

Gene Details

Gene

NSUN5

Gene Name

NOP2/Sun RNA methyltransferase family member 5

There are no transcripts associated with this gene.

Gene

TRIM50

Gene Name

tripartite motif containing 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281450.1	1396	Nonsense Mutation	GAA,TAA	E423*	NP_001268379.1
NM_001281451.1	1396	Nonsense Mutation	GAA,TAA	E424*	NP_001268380.1
NM_178125.3	1396	Nonsense Mutation	GAA,TAA	E424*	NP_835226.2
XM_011515787.1	1396	Intron			XP_011514089.1
XM_011515788.2	1396	Nonsense Mutation	GAA,TAA	E215*	XP_011514090.1
XM_011515789.2	1396	Nonsense Mutation	GAA,TAA	E423*	XP_011514091.2

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