Product Details

SNP ID

rs1056861

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63873717 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCAGGTCCTGGCAGCCAAGGAGA[A/G]GCACTGTGGAGAGCTCAAGAGGAGG

Phenotype

MIM: 603747

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TPD52L2 PubMed Links

Gene Details

Gene

TPD52L2

Gene Name

tumor protein D52 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243891.1	353	Missense Mutation	AAG,AGG	K47R	NP_001230820.1
NM_001243892.1	353	Missense Mutation	AAG,AGG	K49R	NP_001230821.1
NM_001243894.1	353	Missense Mutation	AAG,AGG	K72R	NP_001230823.1
NM_001243895.1	353	Missense Mutation	AAG,AGG	K72R	NP_001230824.1
NM_003288.3	353	Missense Mutation	AAG,AGG	K72R	NP_003279.2
NM_199359.2	353	Missense Mutation	AAG,AGG	K72R	NP_955391.1
NM_199360.2	353	Missense Mutation	AAG,AGG	K72R	NP_955392.1
NM_199361.2	353	Missense Mutation	AAG,AGG	K72R	NP_955393.1
NM_199362.2	353	Missense Mutation	AAG,AGG	K72R	NP_955394.1
NM_199363.2	353	Missense Mutation	AAG,AGG	K72R	NP_955395.1
XM_011529034.2	353	Missense Mutation	AAG,AGG	K72R	XP_011527336.1
XM_011529035.2	353	Missense Mutation	AAG,AGG	K72R	XP_011527337.1
XM_017028038.1	353	Missense Mutation	AAG,AGG	K72R	XP_016883527.1

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