Product Details

SNP ID
rs72549264
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:187218137 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGATTGATATCTCCTCCCCCAA[A/G]ACCTTCATACCAGAATGGTCTTTCT
Phenotype
MIM: 600521
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MASP1 PubMed Links

Gene Details

Gene
MASP1
Gene Name
mannan binding lectin serine peptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031849.2 4424 Intron NP_001027019.1
NM_001879.5 4424 UTR 3 NP_001870.3
NM_139125.3 4424 Intron NP_624302.1
XM_006713701.2 4424 Intron XP_006713764.1
XM_011512989.2 4424 Intron XP_011511291.1
XM_011512990.2 4424 Intron XP_011511292.1
XM_011512991.2 4424 Intron XP_011511293.1
XM_017006869.1 4424 Intron XP_016862358.1
XM_017006870.1 4424 Intron XP_016862359.1
XM_017006871.1 4424 Intron XP_016862360.1
XM_017006872.1 4424 Intron XP_016862361.1

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