Product Details

SNP ID

rs201983684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44189326 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATGATGAGAAGGCTGAAGAGGCG[C/G]GTGAAGGTCGGGGAGACTCCACTGG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ASB16-AS1 PubMed Links

Gene Details

Gene

ASB16-AS1

Gene Name

ASB16 antisense RNA 1

There are no transcripts associated with this gene.

Gene

ATXN7L3

Gene Name

ataxin 7 like 3

There are no transcripts associated with this gene.

Gene

LOC101926967

Gene Name

uncharacterized LOC101926967

There are no transcripts associated with this gene.

Gene

TMUB2

Gene Name

transmembrane and ubiquitin like domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001076674.1	930	Missense Mutation	CGT,GGT	R114G	NP_001070142.1
NM_024107.2	930	Missense Mutation	CGT,GGT	R94G	NP_077012.2
NM_177441.2	930	Missense Mutation	CGT,GGT	R94G	NP_803190.2
XM_011525198.2	930	Missense Mutation	CGT,GGT	R114G	XP_011523500.1
XM_011525200.2	930	Intron			XP_011523502.1
XM_011525201.2	930	Missense Mutation	CGT,GGT	R114G	XP_011523503.1
XM_011525203.2	930	Missense Mutation	CGT,GGT	R105G	XP_011523505.1
XM_011525204.2	930	Missense Mutation	CGT,GGT	R105G	XP_011523506.1
XM_011525205.2	930	Missense Mutation	CGT,GGT	R94G	XP_011523507.1
XM_011525206.2	930	Missense Mutation	CGT,GGT	R94G	XP_011523508.1
XM_011525207.2	930	Missense Mutation	CGT,GGT	R94G	XP_011523509.1
XM_011525208.2	930	Missense Mutation	CGT,GGT	R94G	XP_011523510.1
XM_011525209.2	930	Missense Mutation	CGT,GGT	R94G	XP_011523511.1
XM_011525210.2	930	Intron			XP_011523512.1
XM_011525211.2	930	Intron			XP_011523513.1
XM_017025047.1	930	Missense Mutation	CGT,GGT	R105G	XP_016880536.1
XM_017025048.1	930	Missense Mutation	CGT,GGT	R94G	XP_016880537.1
XM_017025049.1	930	Missense Mutation	CGT,GGT	R94G	XP_016880538.1
XM_017025050.1	930	Missense Mutation	CGT,GGT	R94G	XP_016880539.1
XM_017025051.1	930	Missense Mutation	CGT,GGT	R94G	XP_016880540.1
XM_017025052.1	930	Intron			XP_016880541.1
XM_017025053.1	930	Intron			XP_016880542.1
XM_017025054.1	930	Intron			XP_016880543.1
XM_017025055.1	930	Intron			XP_016880544.1
XM_017025056.1	930	Intron			XP_016880545.1

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