Product Details

SNP ID

rs142070830

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:179082966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCGCCTTCCTCTGTTGGGCCAG[A/C]GGTACCTGGACCTCCTGACCACGTG

Phenotype

MIM: 611063 MIM: 607555

Polymorphism

A/C, Transversion 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	438	Silent Mutation	AGG,CGG	R96R	NP_071766.2

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