Product Details

SNP ID

rs201735019

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65540256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGGGCCTCACCCATCTCTTCC[A/G]GGCTCAGGCACTGGCGCTGCGCGGG

Phenotype

MIM: 602090 MIM: 607982

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LTBP3 PubMed Links

Gene Details

Gene

LTBP3

Gene Name

latent transforming growth factor beta binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130144.2	3684	Missense Mutation	CCG,CTG	P1078L	NP_001123616.1
NM_001164266.1	3684	Missense Mutation	CCG,CTG	P961L	NP_001157738.1
NM_021070.4	3684	Missense Mutation	CCG,CTG	P1078L	NP_066548.2
XM_011545032.2	3684	Missense Mutation	CCG,CTG	P1087L	XP_011543334.1
XM_011545033.2	3684	Missense Mutation	CCG,CTG	P1087L	XP_011543335.1
XM_017017737.1	3684	Intron			XP_016873226.1

Gene

SCYL1

Gene Name

SCY1 like pseudokinase 1

There are no transcripts associated with this gene.

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