Product Details

SNP ID

rs7202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73275573 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TATGTCATGTTACCTTAGTGTTAAA[A/G]GATTAACATAAGGAAACTGCAGCAA

Phenotype

MIM: 603728

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NUMB PubMed Links

Gene Details

Gene

NUMB

Gene Name

NUMB, endocytic adaptor protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005743.1	3248	UTR 3			NP_001005743.1
NM_001005744.1	3248	UTR 3			NP_001005744.1
NM_001005745.1	3248	UTR 3			NP_001005745.1
NM_001320114.1	3248	UTR 3			NP_001307043.1
NM_003744.5	3248	UTR 3			NP_003735.3

Gene

PAPLN

Gene Name

papilin, proteoglycan like sulfated glycoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173462.3	3248	Intron			NP_775733.3
XM_011537290.2	3248	Intron			XP_011535592.1
XM_011537291.2	3248	Intron			XP_011535593.1
XM_011537292.2	3248	Intron			XP_011535594.1
XM_011537293.2	3248	Intron			XP_011535595.1
XM_011537294.2	3248	Intron			XP_011535596.1
XM_011537295.2	3248	Intron			XP_011535597.1
XM_011537296.2	3248	Intron			XP_011535598.1
XM_017021749.1	3248	Intron			XP_016877238.1
XM_017021750.1	3248	Intron			XP_016877239.1

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