Product Details

SNP ID

hCV25939084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:178239095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGCCCTCCCATTCCCCCACCCT[C/T]CCCTGCCTCTCCCAAGCCTGCCCTG

Phenotype

MIM: 610043 MIM: 614683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL23A1 PubMed Links

Gene Details

Gene

COL23A1

Gene Name

collagen type XXIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173465.3		Intron			NP_775736.2

Gene

PHYKPL

Gene Name

5-phosphohydroxy-L-lysine phospho-lyase

There are no transcripts associated with this gene.

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