Product Details

SNP ID

rs147988688

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15110263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGGAGGCCGCCAGGCTCCTGCG[C/T]GCCCTGGTGCTTGCGTGGGACCCTG

Phenotype

MIM: 605770

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ILVBL PubMed Links

Gene Details

Gene

ILVBL

Gene Name

ilvB acetolactate synthase like

There are no transcripts associated with this gene.

Gene

SYDE1

Gene Name

synapse defective Rho GTPase homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300910.1	1060	Silent Mutation	CGC,CGT	R263R	NP_001287839.1
NM_033025.5	1060	Silent Mutation	CGC,CGT	R330R	NP_149014.3

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