Product Details

SNP ID
rs4675133
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:226978294 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCTCCATGTACCAATTACAACCCTT[C/T]CTATAGCCTGCTAGCCCCCCATTAA
Phenotype
MIM: 120131
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL4A4 PubMed Links

Gene Details

Gene
COL4A4
Gene Name
collagen type IV alpha 4 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000092.4 Intron NP_000083.3
XM_005246281.3 Intron XP_005246338.1
XM_005246282.3 Intron XP_005246339.1
XM_006712246.3 Intron XP_006712309.1
XM_011510557.2 Intron XP_011508859.1
XM_011510558.2 Intron XP_011508860.1
XM_011510559.2 Intron XP_011508861.1
XM_011510560.2 Intron XP_011508862.1
XM_011510561.2 Intron XP_011508863.1
XM_011510562.2 Intron XP_011508864.1
XM_011510565.2 Intron XP_011508867.1
XM_011510566.2 Intron XP_011508868.1
XM_011510567.2 Intron XP_011508869.1
XM_011510568.2 Intron XP_011508870.1
XM_011510569.2 Intron XP_011508871.1
XM_011510570.2 Intron XP_011508872.1
XM_011510572.2 Intron XP_011508874.1
XM_017003296.1 Intron XP_016858785.1
XM_017003297.1 Intron XP_016858786.1
XM_017003298.1 Intron XP_016858787.1
XM_017003299.1 Intron XP_016858788.1
XM_017003300.1 Intron XP_016858789.1
Gene
RHBDD1
Gene Name
rhomboid domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167608.1 Intron NP_001161080.1
NM_032276.3 Intron NP_115652.2
XM_017005083.1 Intron XP_016860572.1
XM_017005084.1 Intron XP_016860573.1
XM_017005085.1 Intron XP_016860574.1
XM_017005086.1 Intron XP_016860575.1
XM_017005087.1 Intron XP_016860576.1
XM_017005088.1 Intron XP_016860577.1
XM_017005089.1 Intron XP_016860578.1
XM_017005090.1 Intron XP_016860579.1
XM_017005091.1 Intron XP_016860580.1
XM_017005092.1 Intron XP_016860581.1
XM_017005093.1 Intron XP_016860582.1
XM_017005094.1 Intron XP_016860583.1
XM_017005095.1 Intron XP_016860584.1

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