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SNP ID: rs199661717
Assay Type: Functionally tested
NCBI dbSNP Submissions: 3
Location: Chr.1:46203559 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGGGAACCTCTGGCGCCCTGCTG[C/T]TCCCAGGGGCGTCTAGCACCGGCCA
Phenotype: MIM: 616129 MIM: 606822 MIM: 613170
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: LURAP1 PubMed Links

Gene Details

Gene: LURAP1
Gene Name: leucine rich adaptor protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013615.2	226	Missense Mutation	CTC,TTC	L45F	NP_001013633.1

Gene: POMGNT1
Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243766.1	226	Intron			NP_001230695.1
NM_001290129.1	226	Intron			NP_001277058.1
NM_001290130.1	226	Intron			NP_001277059.1
NM_017739.3	226	Intron			NP_060209.3
XM_005271010.1	226	Intron			XP_005271067.1
XM_006710755.1	226	Intron			XP_006710818.1
XM_006710756.1	226	Intron			XP_006710819.1
XM_011541760.2	226	Intron			XP_011540062.1
XM_017001690.1	226	Intron			XP_016857179.1

Gene: TSPAN1
Gene Name: tetraspanin 1

There are no transcripts associated with this gene.

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