Product Details

SNP ID
rs200137625
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:49121327 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAACTGGGCTGCCTTACTCTCCA[G/T]TGCCCGCTCATTTTCCTCATAGGTG
Phenotype
MIM: 150325 MIM: 614471
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
LAMB2 PubMed Links

Gene Details

Gene
LAMB2
Gene Name
laminin subunit beta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002292.3 5394 Missense Mutation ATG,CTG M1766L NP_002283.3
XM_005265127.3 5394 Missense Mutation ATG,CTG M1766L XP_005265184.1
Gene
USP19
Gene Name
ubiquitin specific peptidase 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199160.1 5394 Intron NP_001186089.1
NM_001199161.1 5394 Intron NP_001186090.1
NM_001199162.1 5394 Intron NP_001186091.1
NM_006677.2 5394 Intron NP_006668.1
XM_005264823.2 5394 Intron XP_005264880.1
XM_005264824.2 5394 Intron XP_005264881.1
XM_005264825.2 5394 Intron XP_005264882.1
XM_005264826.2 5394 Intron XP_005264883.1
XM_005264827.2 5394 Intron XP_005264884.1
XM_005264829.2 5394 Intron XP_005264886.1
XM_005264830.2 5394 Intron XP_005264887.1
XM_005264831.2 5394 Intron XP_005264888.1
XM_006712946.2 5394 Intron XP_006713009.1
XM_006712947.2 5394 Intron XP_006713010.1
XM_006712948.2 5394 Intron XP_006713011.1
XM_006712949.2 5394 Intron XP_006713012.1
XM_006712950.2 5394 Intron XP_006713013.1
XM_006712951.2 5394 Intron XP_006713014.1
XM_006712952.2 5394 Intron XP_006713015.1
XM_006712953.1 5394 Intron XP_006713016.1
XM_017005615.1 5394 Intron XP_016861104.1
XM_017005616.1 5394 Intron XP_016861105.1
XM_017005617.1 5394 Intron XP_016861106.1
XM_017005618.1 5394 Intron XP_016861107.1
XM_017005619.1 5394 Intron XP_016861108.1
XM_017005620.1 5394 Intron XP_016861109.1
XM_017005621.1 5394 Intron XP_016861110.1
XM_017005622.1 5394 Intron XP_016861111.1
XM_017005623.1 5394 Intron XP_016861112.1
XM_017005624.1 5394 Intron XP_016861113.1
XM_017005625.1 5394 Intron XP_016861114.1
XM_017005626.1 5394 Intron XP_016861115.1
XM_017005627.1 5394 Intron XP_016861116.1
XM_017005628.1 5394 Intron XP_016861117.1
XM_017005629.1 5394 Intron XP_016861118.1
XM_017005630.1 5394 Intron XP_016861119.1
XM_017005631.1 5394 Intron XP_016861120.1
XM_017005632.1 5394 Intron XP_016861121.1
XM_017005633.1 5394 Intron XP_016861122.1
XM_017005634.1 5394 Intron XP_016861123.1
XM_017005635.1 5394 Intron XP_016861124.1

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