Product Details

SNP ID

rs200045476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53269974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTATGAGAGCTGCCAGTTCTTCCT[C/T]TCAGGCCTGGAACGAGGCACCAAGA

Phenotype

MIM: 604143

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ESPL1 PubMed Links

Gene Details

Gene

ESPL1

Gene Name

extra spindle pole bodies like 1, separase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012291.4	1123	Silent Mutation	CTC,CTT	L344L	NP_036423.4
XM_006719705.3	1123	Silent Mutation	CTC,CTT	L344L	XP_006719768.1
XM_011539024.2	1123	Silent Mutation	CTC,CTT	L344L	XP_011537326.1
XM_011539025.2	1123	Silent Mutation	CTC,CTT	L344L	XP_011537327.1
XM_017020253.1	1123	Silent Mutation	CTC,CTT	L19L	XP_016875742.1

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