Product Details

SNP ID

rs116618591

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:45504408 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTCCCGTGTAACAAGTGTTTCC[A/G]TCCACAGGGGGAGAAGGGAGACCGA

Phenotype

MIM: 120328 MIM: 600424

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL18A1 PubMed Links

Gene Details

Gene

COL18A1

Gene Name

collagen type XVIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030582.3		Intron			NP_085059.2
NM_130444.2		Intron			NP_569711.2
NM_130445.3		Intron			NP_569712.2

Gene

SLC19A1

Gene Name

solute carrier family 19 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001205206.1		Intron			NP_001192135.1
NM_001205207.1		Intron			NP_001192136.1
NM_194255.2		Intron			NP_919231.1
XM_005261164.3		Intron			XP_005261221.1
XM_011529696.2		Intron			XP_011527998.1
XM_011529698.2		Intron			XP_011528000.1
XM_011529700.2		Intron			XP_011528002.1
XM_011529701.2		Intron			XP_011528003.1
XM_011529702.2		Intron			XP_011528004.1
XM_011529703.2		Intron			XP_011528005.1
XM_011529704.2		Intron			XP_011528006.1
XM_011529706.2		Intron			XP_011528008.1
XM_011529709.2		Intron			XP_011528011.1
XM_017028443.1		Intron			XP_016883932.1
XM_017028444.1		Intron			XP_016883933.1
XM_017028445.1		Intron			XP_016883934.1
XM_017028446.1		Intron			XP_016883935.1

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