Product Details

SNP ID

rs141290597

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44190674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCCTCAGCCTCCTTGGCCCCCT[C/T]GGCCACTGAGCCACCCAGCCTTGGT

Phenotype

Polymorphism

C/T, 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	1366	Missense Mutation	TCG,TTG	S259L	NP_001070142.1
NM_024107.2	1366	Missense Mutation	TCG,TTG	S239L	NP_077012.2
NM_177441.2	1366	Missense Mutation	TCG,TTG	S239L	NP_803190.2
XM_011525198.2	1366	Missense Mutation	TCG,TTG	S259L	XP_011523500.1
XM_011525200.2	1366	Missense Mutation	TCG,TTG	S312L	XP_011523502.1
XM_011525201.2	1366	Missense Mutation	TCG,TTG	S259L	XP_011523503.1
XM_011525203.2	1366	Missense Mutation	TCG,TTG	S250L	XP_011523505.1
XM_011525204.2	1366	Missense Mutation	TCG,TTG	S250L	XP_011523506.1
XM_011525205.2	1366	Missense Mutation	TCG,TTG	S239L	XP_011523507.1
XM_011525206.2	1366	Missense Mutation	TCG,TTG	S239L	XP_011523508.1
XM_011525207.2	1366	Missense Mutation	TCG,TTG	S239L	XP_011523509.1
XM_011525208.2	1366	Missense Mutation	TCG,TTG	S239L	XP_011523510.1
XM_011525209.2	1366	Missense Mutation	TCG,TTG	S239L	XP_011523511.1
XM_011525210.2	1366	Missense Mutation	TCG,TTG	S202L	XP_011523512.1
XM_011525211.2	1366	UTR 3			XP_011523513.1
XM_017025047.1	1366	Missense Mutation	TCG,TTG	S250L	XP_016880536.1
XM_017025048.1	1366	Missense Mutation	TCG,TTG	S239L	XP_016880537.1
XM_017025049.1	1366	Missense Mutation	TCG,TTG	S239L	XP_016880538.1
XM_017025050.1	1366	Missense Mutation	TCG,TTG	S239L	XP_016880539.1
XM_017025051.1	1366	Missense Mutation	TCG,TTG	S239L	XP_016880540.1
XM_017025052.1	1366	Missense Mutation	TCG,TTG	S213L	XP_016880541.1
XM_017025053.1	1366	Missense Mutation	TCG,TTG	S213L	XP_016880542.1
XM_017025054.1	1366	Missense Mutation	TCG,TTG	S202L	XP_016880543.1
XM_017025055.1	1366	Missense Mutation	TCG,TTG	S202L	XP_016880544.1
XM_017025056.1	1366	UTR 3			XP_016880545.1

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