Product Details

SNP ID

rs142920998

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:25553955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAACTGGACAGACACGCGGGAGA[A/C]GCTGCTGGAGGGGATGCTGTTCAGC

Phenotype

MIM: 605747

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LDLRAP1 PubMed Links

Gene Details

Gene

LDLRAP1

Gene Name

low density lipoprotein receptor adaptor protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015627.2	1178	Missense Mutation	AAG,ACG	K41T	NP_056442.2
XM_006710559.3	1178	Missense Mutation	AAG,ACG	K41T	XP_006710622.1
XM_006710560.3	1178	Missense Mutation	AAG,ACG	K41T	XP_006710623.1
XM_006710561.3	1178	Missense Mutation	AAG,ACG	K41T	XP_006710624.1
XM_011541209.2	1178	Missense Mutation	AAG,ACG	K41T	XP_011539511.1
XM_011541210.2	1178	Missense Mutation	AAG,ACG	K41T	XP_011539512.1
XM_011541211.2	1178	Missense Mutation	AAG,ACG	K41T	XP_011539513.1
XM_011541212.2	1178	Missense Mutation	AAG,ACG	K41T	XP_011539514.1
XM_017000994.1	1178	Missense Mutation	AAG,ACG	K14T	XP_016856483.1
XM_017000995.1	1178	Missense Mutation	AAG,ACG	K41T	XP_016856484.1

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