Product Details

SNP ID

rs190483911

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46230493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCAGAACTGCGACTCAGCCCGGA[C/T]CTCGGATGACAGGCTTTGTCGCAGG

Phenotype

MIM: 610544

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IGFL1 PubMed Links

Gene Details

Gene

IGFL1

Gene Name

IGF like family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198541.1	322	Missense Mutation	ACC,ATC	T100I	NP_940943.1

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