Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs6420424

Hard Link
rs6420424 is a snp on gene PKD1L2 (polycystic kidney disease 1-like 2)

GenePKD1L2 Chromosome number 16 Chromosome position 81208497
Alleles A/G Minor Allele G Minor Allele Frequency 0.4345
Notation 754C>T Arg252Trp Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense Variant
Gene Function
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS) | rs1801394 (MTRR)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2569191 (CD14) | rs20541 (IL13) | rs2844682 (MUC21) | rs4680 (COMT) | rs2476601 (PTPN22) | rs6025 (F5) | rs2075252 (LRP2) | rs1801181 (CBS)








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