Product Details

SNP ID

rs201133931

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:153665255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGATCCAGTTTTCGAAGATTGGGT[A/G]GCACTGTTGTAATGAGAATCTTCAC

Phenotype

MIM: 603181 MIM: 607007

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ILF2 PubMed Links

Gene Details

Gene

ILF2

Gene Name

interleukin enhancer binding factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267809.1	648	Missense Mutation	CCA,CTA	P143L	NP_001254738.1
NM_004515.3	648	Missense Mutation	CCA,CTA	P181L	NP_004506.2

Gene

SNAPIN

Gene Name

SNAP associated protein

There are no transcripts associated with this gene.

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