Product Details

SNP ID

rs201322641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:178242351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCTGCCCTCACCTTCTCTCCA[C/T]GCTCGCTCCGATCACCTTTCTCTCC

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	2597	Missense Mutation	CAT,CGT	H495R	NP_775736.2
XM_006714933.3	2597	Missense Mutation	CAT,CGT	H495R	XP_006714996.1
XM_006714934.3	2597	Missense Mutation	CAT,CGT	H486R	XP_006714997.1
XM_006714935.3	2597	Missense Mutation	CAT,CGT	H483R	XP_006714998.1
XM_006714936.3	2597	Missense Mutation	CAT,CGT	H474R	XP_006714999.1
XM_011534688.2	2597	Missense Mutation	CAT,CGT	H486R	XP_011532990.1
XM_011534689.2	2597	Missense Mutation	CAT,CGT	H477R	XP_011532991.1
XM_011534690.2	2597	Missense Mutation	CAT,CGT	H477R	XP_011532992.1
XM_011534691.2	2597	Missense Mutation	CAT,CGT	H459R	XP_011532993.1
XM_011534692.2	2597	Missense Mutation	CAT,CGT	H401R	XP_011532994.1
XM_017010018.1	2597	Intron			XP_016865507.1

Gene

PHYKPL

Gene Name

5-phosphohydroxy-L-lysine phospho-lyase

There are no transcripts associated with this gene.

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