Product Details

SNP ID

rs201819162

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:179082235 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCGTGGGAGGGAACCGACGAGC[C/T]GGGCTCGGCCTGGGCCTGGCCGGGC

Phenotype

MIM: 611063 MIM: 607555

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM20B PubMed Links

Gene Details

Gene

FAM20B

Gene Name

family with sequence similarity 20 member B

There are no transcripts associated with this gene.

Gene

TOR3A

Gene Name

torsin family 3 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022371.3	259	Missense Mutation	CCG,CTG	P36L	NP_071766.2

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