Product Details

SNP ID

rs121909187

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:19116954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCGCGGCGAACGCCTCGTTCAGC[T/G]ACTGGGTGCGCTGGCGCTCCCGCAC

Phenotype

MIM: 601622

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

TWIST1 PubMed Links

Gene Details

Gene

TWIST1

Gene Name

twist family bHLH transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000474.3	466	Nonsense Mutation	TAG,TCG	*123S	NP_000465.1
XM_011515496.1	466	Nonsense Mutation	TAG,TCG	*123S	XP_011513798.1

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