Product Details

SNP ID

rs200774344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:171309517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCTGGGAGGGCCCCCCGGGGGCC[A/G]TCCGGGCGCCACATACCCGTCTCTG

Phenotype

MIM: 606141 MIM: 604640

Polymorphism

A/G, Transition 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

RANBP17

Gene Name

RAN binding protein 17

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	234	Missense Mutation	CAT,CGT	H51R	NP_066305.2

View Full Product Details