Product Details
- SNP ID
-
rs147051900
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:51619108 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGTTGCTCCTGAATAGTTTCCGG[A/G]TGTACTGAATGAAGGCAGAATGCCT
- Phenotype
-
MIM: 606702
- Polymorphism
- A/G, 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 |
11584 |
Silent Mutation |
CAC,CAT |
H4066H |
NP_619639.3 |
NM_170724.2 |
11584 |
Intron |
|
|
NP_733842.2 |
XM_011514680.2 |
11584 |
Silent Mutation |
CAC,CAT |
H4066H |
XP_011512982.1 |
XM_011514682.2 |
11584 |
Silent Mutation |
CAC,CAT |
H4020H |
XP_011512984.1 |
XM_011514683.2 |
11584 |
Silent Mutation |
CAC,CAT |
H3852H |
XP_011512985.1 |
XM_011514684.2 |
11584 |
Silent Mutation |
CAC,CAT |
H3829H |
XP_011512986.1 |
XM_011514685.1 |
11584 |
Intron |
|
|
XP_011512987.1 |
XM_011514686.2 |
11584 |
Intron |
|
|
XP_011512988.1 |
XM_011514687.1 |
11584 |
Intron |
|
|
XP_011512989.1 |
XM_011514688.2 |
11584 |
Intron |
|
|
XP_011512990.1 |
XM_011514690.2 |
11584 |
Silent Mutation |
CAC,CAT |
H2091H |
XP_011512992.1 |
XM_011514691.2 |
11584 |
Silent Mutation |
CAC,CAT |
H2091H |
XP_011512993.1 |
XM_017010944.1 |
11584 |
Silent Mutation |
CAC,CAT |
H4066H |
XP_016866433.1 |
XM_017010945.1 |
11584 |
Silent Mutation |
CAC,CAT |
H4041H |
XP_016866434.1 |
XM_017010946.1 |
11584 |
Silent Mutation |
CAC,CAT |
H4001H |
XP_016866435.1 |
XM_017010947.1 |
11584 |
Silent Mutation |
CAC,CAT |
H3978H |
XP_016866436.1 |
XM_017010948.1 |
11584 |
Silent Mutation |
CAC,CAT |
H3829H |
XP_016866437.1 |
XM_017010949.1 |
11584 |
Silent Mutation |
CAC,CAT |
H3446H |
XP_016866438.1 |
XM_017010950.1 |
11584 |
Intron |
|
|
XP_016866439.1 |
XM_017010951.1 |
11584 |
Intron |
|
|
XP_016866440.1 |
XM_017010952.1 |
11584 |
Intron |
|
|
XP_016866441.1 |
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