Product Details

SNP ID

rs35596291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:145098188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCAGCAGCTGGCTTCGCCAACG[C/G]CGTTGAACAAGGGTCGCAGCTCAAT

Phenotype

MIM: 601213 MIM: 613745

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABCE1 PubMed Links

Gene Details

Gene

ABCE1

Gene Name

ATP binding cassette subfamily E member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040876.1	48	UTR 5			NP_001035809.1
NM_002940.2	48	UTR 5			NP_002931.2

Gene

ANAPC10

Gene Name

anaphase promoting complex subunit 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256706.1	48	UTR 5			NP_001243635.1
NM_001256707.1	48	UTR 5			NP_001243636.1
NM_001256708.1	48	Intron			NP_001243637.1
NM_001256709.1	48	UTR 5			NP_001243638.1
NM_001256710.1	48	UTR 5			NP_001243639.1
NM_001256711.1	48	UTR 5			NP_001243640.1
NM_001256712.1	48	UTR 5			NP_001243641.1
NM_001318367.1	48	Intron			NP_001305296.1
NM_014885.4	48	UTR 5			NP_055700.2
XM_011531524.2	48	Intron			XP_011529826.1
XM_011531525.2	48	Missense Mutation	CCG,GCG	P12A	XP_011529827.1
XM_011531526.2	48	Missense Mutation	CCG,GCG	P12A	XP_011529828.1
XM_011531527.2	48	Missense Mutation	CCG,GCG	P12A	XP_011529829.1
XM_011531529.2	48	Intron			XP_011529831.1
XM_011531530.2	48	Intron			XP_011529832.1
XM_011531531.2	48	Missense Mutation	CCG,GCG	P12A	XP_011529833.1
XM_011531532.2	48	UTR 5			XP_011529834.1
XM_017007638.1	48	Missense Mutation	CCG,GCG	P12A	XP_016863127.1
XM_017007639.1	48	Intron			XP_016863128.1
XM_017007640.1	48	Intron			XP_016863129.1
XM_017007641.1	48	UTR 5			XP_016863130.1
XM_017007642.1	48	Intron			XP_016863131.1
XM_017007643.1	48	Missense Mutation	CCG,GCG	P12A	XP_016863132.1
XM_017007644.1	48	UTR 5			XP_016863133.1

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