Product Details

SNP ID

rs112460560

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32947522 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAACGCCAGGTACAGCCGCAGCTC[C/G]GCGGCTGCCGGCGCCCCCAGCCGTG

Phenotype

MIM: 150390

Polymorphism

C/G, 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	394	Intron			NP_000618.3
NM_001166264.1	394	Intron			NP_001159736.1
NM_001166265.1	394	Intron			NP_001159737.1
NM_001166266.1	394	Intron			NP_001159738.1
NM_206943.2	394	Silent Mutation	TCC,TCG	S66S	NP_996826.2
XM_005264317.3	394	Silent Mutation	TCC,TCG	S66S	XP_005264374.1
XM_005264318.3	394	Silent Mutation	TCC,TCG	S66S	XP_005264375.1
XM_011532853.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531155.1
XM_011532855.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531157.1
XM_011532856.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531158.1
XM_011532857.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531159.1
XM_011532858.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531160.1
XM_011532859.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531161.1
XM_011532860.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531162.1
XM_011532861.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531163.1
XM_011532862.2	394	Silent Mutation	TCC,TCG	S66S	XP_011531164.1
XM_017004108.1	394	Silent Mutation	TCC,TCG	S66S	XP_016859597.1
XM_017004109.1	394	Silent Mutation	TCC,TCG	S66S	XP_016859598.1
XM_017004110.1	394	Silent Mutation	TCC,TCG	S66S	XP_016859599.1

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