Product Details

SNP ID

rs138244213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:51329700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGACTCACATTATTTATCCAGGAG[A/T]TGTAAGCAGAGACCTGGGTGAAGAC

Phenotype

MIM: 605936 MIM: 130120

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

BIN2 PubMed Links

Gene Details

Gene

BIN2

Gene Name

bridging integrator 2

There are no transcripts associated with this gene.

Gene

CELA1

Gene Name

chymotrypsin like elastase family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001971.5	784	Missense Mutation	AAC,ATC	N248I	NP_001962.3

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