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SNP ID

rs144228893

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:46203521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAAGGGCTGCTCCGCGGGCTGC[A/G]AGGCGAGTGTGAGCTGGGAACCTCT

Phenotype

MIM: 616129 MIM: 606822 MIM: 613170

Polymorphism

A/G, 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	188	Missense Mutation	CAA,CGA	Q32R	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	188	Intron			NP_001230695.1
NM_001290129.1	188	Intron			NP_001277058.1
NM_001290130.1	188	Intron			NP_001277059.1
NM_017739.3	188	Intron			NP_060209.3
XM_005271010.1	188	Intron			XP_005271067.1
XM_006710755.1	188	Intron			XP_006710818.1
XM_006710756.1	188	Intron			XP_006710819.1
XM_011541760.2	188	Intron			XP_011540062.1
XM_017001690.1	188	Intron			XP_016857179.1

Gene

TSPAN1

Gene Name

tetraspanin 1

There are no transcripts associated with this gene.

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