Product Details

SNP ID

rs148094474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:68839673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCTCTTCCTGCAGCAACATCCA[A/T]TGGAAGCCTGGAGGGGCTGGAAAAC

Phenotype

MIM: 300035

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

EFNB1 PubMed Links

Gene Details

Gene

EFNB1

Gene Name

ephrin B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004429.4	1196	Missense Mutation	AAT,ATT	N139I	NP_004420.1

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