Product Details

SNP ID

rs143353575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:39736839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGTACCAAGGAGCCAAATGGTG[A/T]CATTCTGTCTAAGAATTTGTGGTTA

Phenotype

MIM: 611751

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

THUMPD2 PubMed Links

Gene Details

Gene

THUMPD2

Gene Name

THUMP domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321468.1	1543	UTR 3			NP_001308397.1
NM_001321469.1	1543	Missense Mutation	ACA,TCA	T377S	NP_001308398.1
NM_001321470.1	1543	Missense Mutation	ACA,TCA	T361S	NP_001308399.1
NM_001321474.1	1543	UTR 3			NP_001308403.1
NM_001321475.1	1543	UTR 3			NP_001308404.1
NM_001321477.1	1543	Missense Mutation	ACA,TCA	T236S	NP_001308406.1
NM_001321478.1	1543	Missense Mutation	ACA,TCA	T236S	NP_001308407.1
NM_001321479.1	1543	Missense Mutation	ACA,TCA	T236S	NP_001308408.1
NM_001321480.1	1543	Missense Mutation	ACA,TCA	T236S	NP_001308409.1
NM_001321481.1	1543	Missense Mutation	ACA,TCA	T236S	NP_001308410.1
NM_025264.4	1543	Missense Mutation	ACA,TCA	T470S	NP_079540.2
XM_011533119.2	1543	Missense Mutation	ACA,TCA	T262S	XP_011531421.1
XM_017005050.1	1543	Missense Mutation	ACA,TCA	T454S	XP_016860539.1
XM_017005051.1	1543	UTR 3			XP_016860540.1
XM_017005052.1	1543	Intron			XP_016860541.1
XM_017005053.1	1543	Intron			XP_016860542.1
XM_017005054.1	1543	Missense Mutation	ACA,TCA	T236S	XP_016860543.1

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