Product Details

SNP ID
rs77227361
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:51617444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAATACATCATCTACAAAGAGGA[C/T]TTACTCAGCATGGCAGCCAGCTTGT
Phenotype
MIM: 606702
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC101927082 PubMed Links

Gene Details

Gene
LOC101927082
Gene Name
uncharacterized LOC101927082
There are no transcripts associated with this gene.

Gene
PKHD1
Gene Name
polycystic kidney and hepatic disease 1 (autosomal recessive)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138694.3 13248 UTR 3 NP_619639.3
NM_170724.2 13248 Intron NP_733842.2
XM_011514680.2 13248 UTR 3 XP_011512982.1
XM_011514682.2 13248 UTR 3 XP_011512984.1
XM_011514683.2 13248 UTR 3 XP_011512985.1
XM_011514684.2 13248 UTR 3 XP_011512986.1
XM_011514685.1 13248 Intron XP_011512987.1
XM_011514686.2 13248 Intron XP_011512988.1
XM_011514687.1 13248 Intron XP_011512989.1
XM_011514688.2 13248 Intron XP_011512990.1
XM_011514690.2 13248 UTR 3 XP_011512992.1
XM_011514691.2 13248 UTR 3 XP_011512993.1
XM_017010944.1 13248 UTR 3 XP_016866433.1
XM_017010945.1 13248 UTR 3 XP_016866434.1
XM_017010946.1 13248 UTR 3 XP_016866435.1
XM_017010947.1 13248 UTR 3 XP_016866436.1
XM_017010948.1 13248 UTR 3 XP_016866437.1
XM_017010949.1 13248 UTR 3 XP_016866438.1
XM_017010950.1 13248 Intron XP_016866439.1
XM_017010951.1 13248 Intron XP_016866440.1
XM_017010952.1 13248 Intron XP_016866441.1

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