Product Details

SNP ID

rs117450750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:22138686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACCACACGCAGGCTCTGGCTGC[A/G]GATTAGGGGCTTCTCTCGGGGCCGG

Phenotype

MIM: 602302 MIM: 608302 MIM: 609349

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HR PubMed Links

Gene Details

Gene

HR

Gene Name

hair growth associated

There are no transcripts associated with this gene.

Gene

LGI3

Gene Name

leucine rich repeat LGI family member 3

There are no transcripts associated with this gene.

Gene

REEP4

Gene Name

receptor accessory protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316964.1	1130	Intron			NP_001303893.1
NM_001316965.1	1130	UTR 3			NP_001303894.1
NM_025232.3	1130	Missense Mutation	CGC,TGC	R221C	NP_079508.2

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