Product Details

SNP ID

rs147954119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:105662661 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATGAGGTATATCAACTTCTTGGT[C/T]AAGGTCTTGGGGGAGCAAAGCCTGC

Phenotype

MIM: 607440 MIM: 186855

Polymorphism

C/T, Transition 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	205	Silent Mutation	GTC,GTT	V55V	NP_005412.1

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