Product Details

SNP ID

rs117500205

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49602394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTAAGGGAGAACATTGAGCAATTC[C/T]TCACCAAATTTGTAGATGAGGGGAA

Phenotype

MIM: 609193

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC100288910 PubMed Links

Gene Details

Gene

LOC100288910

Gene Name

uncharacterized LOC100288910

There are no transcripts associated with this gene.

Gene

LRR1

Gene Name

leucine rich repeat protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152329.3	532	Missense Mutation	CTC,TTC	L70F	NP_689542.2
NM_203467.1	532	Missense Mutation	CTC,TTC	L70F	NP_982292.1

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