Product Details

SNP ID

rs145381023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32947749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGGCAGGCAAGTTGTGCGCTCCA[A/G]GGTGCCGCAGGAGACCCAGAGCGGC

Phenotype

MIM: 150390

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC100271832 PubMed Links

Gene Details

Gene

LOC100271832

Gene Name

uncharacterized LOC100271832

There are no transcripts associated with this gene.

Gene

LTBP1

Gene Name

latent transforming growth factor beta binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000627.3	621	Intron			NP_000618.3
NM_001166264.1	621	Intron			NP_001159736.1
NM_001166265.1	621	Intron			NP_001159737.1
NM_001166266.1	621	Intron			NP_001159738.1
NM_206943.2	621	Missense Mutation	AAG,AGG	K142R	NP_996826.2
XM_005264317.3	621	Missense Mutation	AAG,AGG	K142R	XP_005264374.1
XM_005264318.3	621	Missense Mutation	AAG,AGG	K142R	XP_005264375.1
XM_011532853.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531155.1
XM_011532855.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531157.1
XM_011532856.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531158.1
XM_011532857.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531159.1
XM_011532858.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531160.1
XM_011532859.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531161.1
XM_011532860.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531162.1
XM_011532861.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531163.1
XM_011532862.2	621	Missense Mutation	AAG,AGG	K142R	XP_011531164.1
XM_017004108.1	621	Missense Mutation	AAG,AGG	K142R	XP_016859597.1
XM_017004109.1	621	Missense Mutation	AAG,AGG	K142R	XP_016859598.1
XM_017004110.1	621	Missense Mutation	AAG,AGG	K142R	XP_016859599.1

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