Product Details

SNP ID

rs2364600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53269289 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCTGCTGCACAAGGAAGCCCAGAGG[C/T]CACACTCCGCCTTGCTCAGCCCCTC

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	438	Missense Mutation	GCC,GTC	A116V	NP_036423.4
XM_006719705.3	438	Missense Mutation	GCC,GTC	A116V	XP_006719768.1
XM_011539024.2	438	Missense Mutation	GCC,GTC	A116V	XP_011537326.1
XM_011539025.2	438	Missense Mutation	GCC,GTC	A116V	XP_011537327.1
XM_017020253.1	438	UTR 5			XP_016875742.1

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