Product Details

SNP ID
rs200427354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:45505883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGCCATGCTGGGCCAGGTGCAC[A/G]AGGTTCCCGAGGGCTGGCTCATCTT
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 3685 Missense Mutation AAG,GAG K1222E NP_085059.2
NM_130444.2 3685 Missense Mutation AAG,GAG K1457E NP_569711.2
NM_130445.3 3685 Missense Mutation AAG,GAG K1042E 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 3685 Intron NP_001192135.1
NM_001205207.1 3685 Intron NP_001192136.1
NM_194255.2 3685 Intron NP_919231.1
XM_005261164.3 3685 Intron XP_005261221.1
XM_011529696.2 3685 Intron XP_011527998.1
XM_011529698.2 3685 Intron XP_011528000.1
XM_011529700.2 3685 Intron XP_011528002.1
XM_011529701.2 3685 Intron XP_011528003.1
XM_011529702.2 3685 Intron XP_011528004.1
XM_011529703.2 3685 Intron XP_011528005.1
XM_011529704.2 3685 Intron XP_011528006.1
XM_011529706.2 3685 Intron XP_011528008.1
XM_011529709.2 3685 Intron XP_011528011.1
XM_017028443.1 3685 Intron XP_016883932.1
XM_017028444.1 3685 Intron XP_016883933.1
XM_017028445.1 3685 Intron XP_016883934.1
XM_017028446.1 3685 Intron XP_016883935.1

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