Product Details

SNP ID

rs201600677

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:171311582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGATAGTTCCAAGGTTCCCGCT[C/G]TCACCTCCCTGGTGTGAGCCCACCA

Phenotype

MIM: 604640

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC728145 PubMed Links

Gene Details

Gene

LOC728145

Gene Name

collagen alpha-1(I) chain

There are no transcripts associated with this gene.

Gene

TLX3

Gene Name

T-cell leukemia homeobox 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021025.3	941	Missense Mutation	CTC,GTC	L287V	NP_066305.2

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