Product Details

SNP ID

rs148821684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44190562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCTACCAGGGCCGCCTGCTACAA[A/G]ACCCAGCCCGCACACTGCGTTCTCT

Phenotype

Polymorphism

A/G, Transition 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	1254	Missense Mutation	AAC,GAC	N222D	NP_001070142.1
NM_024107.2	1254	Missense Mutation	AAC,GAC	N202D	NP_077012.2
NM_177441.2	1254	Missense Mutation	AAC,GAC	N202D	NP_803190.2
XM_011525198.2	1254	Missense Mutation	AAC,GAC	N222D	XP_011523500.1
XM_011525200.2	1254	Missense Mutation	AAC,GAC	N275D	XP_011523502.1
XM_011525201.2	1254	Missense Mutation	AAC,GAC	N222D	XP_011523503.1
XM_011525203.2	1254	Missense Mutation	AAC,GAC	N213D	XP_011523505.1
XM_011525204.2	1254	Missense Mutation	AAC,GAC	N213D	XP_011523506.1
XM_011525205.2	1254	Missense Mutation	AAC,GAC	N202D	XP_011523507.1
XM_011525206.2	1254	Missense Mutation	AAC,GAC	N202D	XP_011523508.1
XM_011525207.2	1254	Missense Mutation	AAC,GAC	N202D	XP_011523509.1
XM_011525208.2	1254	Missense Mutation	AAC,GAC	N202D	XP_011523510.1
XM_011525209.2	1254	Missense Mutation	AAC,GAC	N202D	XP_011523511.1
XM_011525210.2	1254	Missense Mutation	AAC,GAC	N165D	XP_011523512.1
XM_011525211.2	1254	UTR 3			XP_011523513.1
XM_017025047.1	1254	Missense Mutation	AAC,GAC	N213D	XP_016880536.1
XM_017025048.1	1254	Missense Mutation	AAC,GAC	N202D	XP_016880537.1
XM_017025049.1	1254	Missense Mutation	AAC,GAC	N202D	XP_016880538.1
XM_017025050.1	1254	Missense Mutation	AAC,GAC	N202D	XP_016880539.1
XM_017025051.1	1254	Missense Mutation	AAC,GAC	N202D	XP_016880540.1
XM_017025052.1	1254	Missense Mutation	AAC,GAC	N176D	XP_016880541.1
XM_017025053.1	1254	Missense Mutation	AAC,GAC	N176D	XP_016880542.1
XM_017025054.1	1254	Missense Mutation	AAC,GAC	N165D	XP_016880543.1
XM_017025055.1	1254	Missense Mutation	AAC,GAC	N165D	XP_016880544.1
XM_017025056.1	1254	UTR 3			XP_016880545.1

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