Product Details

SNP ID

rs201087823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:149776973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTGCCAAGTGGAACCGGACAG[C/T]GAGGACTTGTTGCCCAGGCTGGGGG

Phenotype

MIM: 614040

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SSPO PubMed Links

Gene Details

Gene

SSPO

Gene Name

SCO-spondin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198455.2	272	Missense Mutation	GCG,GTG	A91V	NP_940857.2

Gene

ZNF467

Gene Name

zinc finger protein 467

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005249959.4	272	Intron			XP_005250016.1
XM_005249960.4	272	Intron			XP_005250017.1
XM_005249961.4	272	Intron			XP_005250018.1
XM_006715864.3	272	Intron			XP_006715927.1
XM_011515855.2	272	Intron			XP_011514157.1
XM_011515856.2	272	Intron			XP_011514158.1
XM_011515857.2	272	Intron			XP_011514159.1
XM_011515858.1	272	Intron			XP_011514160.1
XM_017011799.1	272	Intron			XP_016867288.1

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