Product Details

SNP ID

rs142276783

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:105897987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGGGGCTGGGCTCGCCAGTCTT[C/G]GGGACAGTGTCAGCGTGAGTATCAA

Phenotype

MIM: 610306

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NPNT PubMed Links

Gene Details

Gene

NPNT

Gene Name

nephronectin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033047.2	371	Missense Mutation	TCG,TGG	S53W	NP_001028219.1
NM_001184690.1	371	Missense Mutation	TCG,TGG	S53W	NP_001171619.1
NM_001184691.1	371	Missense Mutation	TCG,TGG	S53W	NP_001171620.1
NM_001184692.1	371	Missense Mutation	TCG,TGG	S53W	NP_001171621.1
NM_001184693.1	371	Missense Mutation	TCG,TGG	S53W	NP_001171622.1
XM_005262888.4	371	Missense Mutation	TCG,TGG	S53W	XP_005262945.1
XM_005262890.1	371	Intron			XP_005262947.1
XM_011531820.2	371	Missense Mutation	TCG,TGG	S54W	XP_011530122.1
XM_011531822.2	371	Missense Mutation	TCG,TGG	S54W	XP_011530124.1
XM_011531823.2	371	Missense Mutation	TCG,TGG	S54W	XP_011530125.1
XM_011531824.2	371	Missense Mutation	TCG,TGG	S54W	XP_011530126.1
XM_011531825.2	371	Missense Mutation	TCG,TGG	S54W	XP_011530127.1
XM_017007984.1	371	Missense Mutation	TCG,TGG	S54W	XP_016863473.1

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