Product Details

SNP ID

rs2296377

Assay Type

Functionally tested

NCBI dbSNP Submissions

63

Location

Chr.1:179082165 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

TCCGTGGCGCCAGCTTTGGCTCTTT[C/T]TCCTGCTGCTGCTCCCGGGCGCGCC

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	189	Missense Mutation	CTC,TTC	L13F	NP_071766.2

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