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SNP ID

rs147951718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35699050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGACCTTGGGTTTGGCCCGGGG[A/C]TTCAGCTGCTCTAGCTTTTTGGCTG

Phenotype

MIM: 186745 MIM: 190990

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TLN1 PubMed Links

Gene Details

Gene

TLN1

Gene Name

talin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006289.3	7335	Missense Mutation	AAG,AAT	K2327N	NP_006280.3

Gene

TPM2

Gene Name

tropomyosin 2 (beta)

There are no transcripts associated with this gene.

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