Product Details

SNP ID
rs145146940
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:51615635 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGAAGCTTGGTTGAATAATATT[C/T]GCATATGATTTACATTTGATTTCCT
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 15057 UTR 3 NP_619639.3
NM_170724.2 15057 Intron NP_733842.2
XM_011514680.2 15057 UTR 3 XP_011512982.1
XM_011514682.2 15057 UTR 3 XP_011512984.1
XM_011514683.2 15057 UTR 3 XP_011512985.1
XM_011514684.2 15057 UTR 3 XP_011512986.1
XM_011514685.1 15057 Intron XP_011512987.1
XM_011514686.2 15057 Intron XP_011512988.1
XM_011514687.1 15057 Intron XP_011512989.1
XM_011514688.2 15057 Intron XP_011512990.1
XM_011514690.2 15057 UTR 3 XP_011512992.1
XM_011514691.2 15057 UTR 3 XP_011512993.1
XM_017010944.1 15057 UTR 3 XP_016866433.1
XM_017010945.1 15057 UTR 3 XP_016866434.1
XM_017010946.1 15057 UTR 3 XP_016866435.1
XM_017010947.1 15057 UTR 3 XP_016866436.1
XM_017010948.1 15057 UTR 3 XP_016866437.1
XM_017010949.1 15057 UTR 3 XP_016866438.1
XM_017010950.1 15057 Intron XP_016866439.1
XM_017010951.1 15057 Intron XP_016866440.1
XM_017010952.1 15057 Intron XP_016866441.1

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