Product Details

SNP ID

rs188233206

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:155209323 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGTCAGTGGACCTGGACAGCCT[C/G]GCCGTGCTGGTGAGGGGTGGCGCCG

Phenotype

MIM: 600605 MIM: 188062

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GBAP1 PubMed Links

Gene Details

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

Gene

MTX1

Gene Name

metaxin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002455.4	625	Silent Mutation	CTC,CTG	L173L	NP_002446.3
NM_198883.3	625	Silent Mutation	CTC,CTG	L173L	NP_942584.2

Gene

THBS3

Gene Name

thrombospondin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252607.1	625	Intron			NP_001239536.1
NM_001252608.1	625	Intron			NP_001239537.1
NM_007112.4	625	Intron			NP_009043.1
XM_006711498.3	625	Intron			XP_006711561.1
XM_011509926.2	625	Intron			XP_011508228.1
XM_011509927.2	625	Intron			XP_011508229.1
XM_011509928.2	625	Intron			XP_011508230.1
XM_011509929.1	625	Intron			XP_011508231.1
XM_011509930.2	625	Intron			XP_011508232.1
XM_011509931.1	625	Intron			XP_011508233.1
XM_011509932.2	625	Intron			XP_011508234.1
XM_011509933.1	625	Intron			XP_011508235.1
XM_011509934.1	625	Intron			XP_011508236.1
XM_011509935.1	625	Intron			XP_011508237.1
XM_011509936.1	625	Intron			XP_011508238.1
XM_017002206.1	625	Intron			XP_016857695.1

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