Product Details

SNP ID

rs201028532

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:33208964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGGGCCATTCTCCTCCTCTTCG[C/G]GGGCGTCCTGGGGGTAGACCACGAA

Phenotype

MIM: 603159 MIM: 607959

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LRP3 PubMed Links

Gene Details

Gene

LRP3

Gene Name

LDL receptor related protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002333.3	1281	Intron			NP_002324.2
XM_005258945.1	1281	Intron			XP_005259002.1

Gene

SLC7A10

Gene Name

solute carrier family 7 member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019849.2	1281	Missense Mutation	CCC,CGC	P500R	NP_062823.1
XM_006723284.2	1281	Missense Mutation	CCC,CGC	P421R	XP_006723347.1
XM_011527119.1	1281	Missense Mutation	CCC,CGC	P637R	XP_011525421.1
XM_011527120.1	1281	Missense Mutation	CCC,CGC	P610R	XP_011525422.1

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