Product Details

SNP ID

rs12867177

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:23419127 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGAGCAAGAGCGCGGCCGTCCGG[A/C]GCCTGTGTGAGCCGACAGGGCAGCT

Phenotype

MIM: 604490

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SACS PubMed Links

Gene Details

Gene

SACS

Gene Name

sacsin molecular chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278055.1		Intron			NP_001264984.1
NM_014363.5		Intron			NP_055178.3
XM_005266338.2		Intron			XP_005266395.1
XM_011535039.2		Intron			XP_011533341.1
XM_017020539.1		Intron			XP_016876028.1

Gene

SACS-AS1

Gene Name

SACS antisense RNA 1

There are no transcripts associated with this gene.

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