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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