Product Details

SNP ID

rs146352544

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:48167623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTGGATCAGGGTGTCTGTCTCC[A/G]TGTCAATGGAGGCTGTGGCTTCATC

Phenotype

MIM: 607040

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCC11 PubMed Links

Gene Details

Gene

ABCC11

Gene Name

ATP binding cassette subfamily C member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032583.3	4279	Missense Mutation	ACG,ATG	T1310M	NP_115972.2
NM_033151.3	4279	Missense Mutation	ACG,ATG	T1310M	NP_149163.2
NM_145186.2	4279	Missense Mutation	ACG,ATG	T1272M	NP_660187.1
XM_011523397.1	4279	Missense Mutation	ACG,ATG	T991M	XP_011521699.1
XM_011523398.2	4279	Missense Mutation	ACG,ATG	T687M	XP_011521700.1
XM_017023795.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879284.1
XM_017023796.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879285.1
XM_017023797.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879286.1
XM_017023798.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879287.1
XM_017023799.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879288.1
XM_017023800.1	4279	Missense Mutation	ACG,ATG	T1310M	XP_016879289.1
XM_017023801.1	4279	Missense Mutation	ACG,ATG	T1274M	XP_016879290.1
XM_017023802.1	4279	Missense Mutation	ACG,ATG	T991M	XP_016879291.1
XM_017023803.1	4279	Intron			XP_016879292.1

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