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SNP ID

rs145651438

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:135927348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTATTTGAACGATAAGCCTATAGA[C/T]AACAGTCTGAAGCTGCAAGGGAGAC

Phenotype

MIM: 611050 MIM: 606484

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LUZP6 PubMed Links

Gene Details

Gene

LUZP6

Gene Name

leucine zipper protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128619.2	3291	Missense Mutation	ATC,GTC	I35V	NP_001122091.2

Gene

MTPN

Gene Name

myotrophin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145808.3	3291	UTR 3			NP_665807.1

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