Product Details

SNP ID
rs144685038
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:137940120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAACCAAGTACAAAATGAGATT[C/G]TCTGAGTGCCTGACAAAACGAATTT
Phenotype
MIM: 609371 MIM: 604669
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
FAM13B PubMed Links

Gene Details

Gene
FAM13B
Gene Name
family with sequence similarity 13 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101800.2 1970 UTR 3 NP_001095270.1
NM_001101801.2 1970 UTR 3 NP_001095271.1
NM_016603.3 1970 UTR 3 NP_057687.2
XM_005272007.1 1970 UTR 3 XP_005272064.1
XM_006714647.1 1970 UTR 3 XP_006714710.1
XM_006714648.1 1970 UTR 3 XP_006714711.1
XM_006714649.1 1970 UTR 3 XP_006714712.1
XM_011543448.1 1970 UTR 3 XP_011541750.1
XM_011543449.1 1970 UTR 3 XP_011541751.1
XM_011543450.1 1970 UTR 3 XP_011541752.1
XM_017009549.1 1970 UTR 3 XP_016865038.1
XM_017009550.1 1970 UTR 3 XP_016865039.1
XM_017009551.1 1970 UTR 3 XP_016865040.1
Gene
PKD2L2
Gene Name
polycystin 2 like 2, transient receptor potential cation channel
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258448.1 1970 UTR 3 NP_001245377.1
NM_001258449.1 1970 UTR 3 NP_001245378.1
NM_001300921.1 1970 Intron NP_001287850.1
NM_014386.3 1970 Missense Mutation TTC,TTG F605L NP_055201.2
XM_011543318.2 1970 Intron XP_011541620.1
XM_011543321.1 1970 Intron XP_011541623.1
XM_017009343.1 1970 Intron XP_016864832.1
XM_017009344.1 1970 Intron XP_016864833.1
XM_017009345.1 1970 Intron XP_016864834.1

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