Product Details

SNP ID

rs200996902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144432371 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTGAGCTCTAAGTGCAGGAGGG[C/T]GCCGGCGGGCAGGCTCTGCAGGGTC

Phenotype

MIM: 604546 MIM: 611952

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MIR6893 PubMed Links

Gene Details

Gene

MIR6893

Gene Name

microRNA 6893

There are no transcripts associated with this gene.

Gene

TONSL

Gene Name

tonsoku-like, DNA repair protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013432.4	3664	Missense Mutation	ACC,GCC	T1217A	NP_038460.4
XM_011517048.2	3664	Missense Mutation	ACC,GCC	T893A	XP_011515350.1
XM_011517049.2	3664	Missense Mutation	ACC,GCC	T881A	XP_011515351.1
XM_011517050.2	3664	Intron			XP_011515352.1

Gene

TONSL-AS1

Gene Name

TONSL antisense RNA 1

There are no transcripts associated with this gene.

Gene

VPS28

Gene Name

VPS28, ESCRT-I subunit

There are no transcripts associated with this gene.

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