Product Details

SNP ID

rs139412585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:128028791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCCCAGGCTGTTTTCTGTCCAG[C/T]GGGCCCCATGTGCTGGTTTGTAGGT

Phenotype

MIM: 610486 MIM: 602181

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRRC4 PubMed Links

Gene Details

Gene

LRRC4

Gene Name

leucine rich repeat containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022143.4	2293	Missense Mutation	CAC,CGC	H617R	NP_071426.1
XM_011516461.2	2293	Missense Mutation	CAC,CGC	H617R	XP_011514763.1
XM_017012505.1	2293	Missense Mutation	CAC,CGC	H617R	XP_016867994.1

Gene

SND1

Gene Name

staphylococcal nuclease and tudor domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017011987.1	2293	Intron			XP_016867476.1

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