Product Details

SNP ID

rs202228164

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32947681 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGGTCCCCGGCGGGCAGCTCCA[A/C]CCCAATCCCGGCGGCCACCCGGCAG

Phenotype

MIM: 150390

Polymorphism

A/C, Transversion 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	553	Intron			NP_000618.3
NM_001166264.1	553	Intron			NP_001159736.1
NM_001166265.1	553	Intron			NP_001159737.1
NM_001166266.1	553	Intron			NP_001159738.1
NM_206943.2	553	Silent Mutation	CAA,CAC	Q119H	NP_996826.2
XM_005264317.3	553	Missense Mutation	CAA,CAC	Q119H	XP_005264374.1
XM_005264318.3	553	Missense Mutation	CAA,CAC	Q119H	XP_005264375.1
XM_011532853.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531155.1
XM_011532855.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531157.1
XM_011532856.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531158.1
XM_011532857.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531159.1
XM_011532858.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531160.1
XM_011532859.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531161.1
XM_011532860.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531162.1
XM_011532861.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531163.1
XM_011532862.2	553	Missense Mutation	CAA,CAC	Q119H	XP_011531164.1
XM_017004108.1	553	Missense Mutation	CAA,CAC	Q119H	XP_016859597.1
XM_017004109.1	553	Missense Mutation	CAA,CAC	Q119H	XP_016859598.1
XM_017004110.1	553	Missense Mutation	CAA,CAC	Q119H	XP_016859599.1

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