Product Details

SNP ID

rs117048984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:149776525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCGCCTGGGCTCTGTCCTATCT[A/G]CAAGTGAGTAAGGGTGAGAGCCTGG

Phenotype

MIM: 614040

Polymorphism

A/G, 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	230	Missense Mutation	TAC,TGC	Y77C	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	230	Intron			XP_005250016.1
XM_005249960.4	230	Intron			XP_005250017.1
XM_005249961.4	230	Intron			XP_005250018.1
XM_006715864.3	230	Intron			XP_006715927.1
XM_011515855.2	230	Intron			XP_011514157.1
XM_011515856.2	230	Intron			XP_011514158.1
XM_011515857.2	230	Intron			XP_011514159.1
XM_011515858.1	230	Intron			XP_011514160.1
XM_017011799.1	230	Intron			XP_016867288.1

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