Product Details

SNP ID

rs200372941

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:47965403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTGAAGGGACACGTCTTCATGAA[A/G]CAGATCAAAATGCACCATCTTGTTA

Phenotype

MIM: 603760 MIM: 609721

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HUS1 PubMed Links

Gene Details

Gene

HUS1

Gene Name

HUS1 checkpoint clamp component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004507.3	900	Missense Mutation	CTT,TTT	L266F	NP_004498.1
XM_017012115.1	900	Missense Mutation	CTT,TTT	L245F	XP_016867604.1

Gene

PKD1L1

Gene Name

polycystin 1 like 1, transient receptor potential channel interacting

There are no transcripts associated with this gene.

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