Product Details

SNP ID

rs150962629

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:105662800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAACTACCAGGTTCCTTCACCT[C/G]GTCCAAGCCACCACATTCCTTAGTG

Phenotype

MIM: 607440 MIM: 186855

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FKTN PubMed Links

Gene Details

Gene

FKTN

Gene Name

fukutin

There are no transcripts associated with this gene.

Gene

TAL2

Gene Name

TAL bHLH transcription factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005421.2	344	Missense Mutation	CGT,GGT	R102G	NP_005412.1

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