Product Details

SNP ID
rs147372425
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:51618849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTAAATAATTAACAAGTGCCATT[A/C]TTTGCCTAGCATTGAACTAGGATCA
Phenotype
MIM: 606702
Polymorphism
A/C, Transversion 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 11843 UTR 3 NP_619639.3
NM_170724.2 11843 Intron NP_733842.2
XM_011514680.2 11843 UTR 3 XP_011512982.1
XM_011514682.2 11843 UTR 3 XP_011512984.1
XM_011514683.2 11843 UTR 3 XP_011512985.1
XM_011514684.2 11843 UTR 3 XP_011512986.1
XM_011514685.1 11843 Intron XP_011512987.1
XM_011514686.2 11843 Intron XP_011512988.1
XM_011514687.1 11843 Intron XP_011512989.1
XM_011514688.2 11843 Intron XP_011512990.1
XM_011514690.2 11843 UTR 3 XP_011512992.1
XM_011514691.2 11843 UTR 3 XP_011512993.1
XM_017010944.1 11843 UTR 3 XP_016866433.1
XM_017010945.1 11843 UTR 3 XP_016866434.1
XM_017010946.1 11843 UTR 3 XP_016866435.1
XM_017010947.1 11843 UTR 3 XP_016866436.1
XM_017010948.1 11843 UTR 3 XP_016866437.1
XM_017010949.1 11843 UTR 3 XP_016866438.1
XM_017010950.1 11843 Intron XP_016866439.1
XM_017010951.1 11843 Intron XP_016866440.1
XM_017010952.1 11843 Intron XP_016866441.1

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