Product Details

SNP ID

rs200895699

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2209597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGATGGGGGTCCTCATGCACAGG[C/T]GCTGCACCAAAGCCCCCGCCTGGGC

Phenotype

MIM: 612190 MIM: 172280

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BRICD5 PubMed Links

Gene Details

Gene

BRICD5

Gene Name

BRICHOS domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182563.3	2752	Missense Mutation	CAC,CGC	H183R	NP_872369.2
XM_005255263.4	2752	Missense Mutation	CAC,CGC	H183R	XP_005255320.1

Gene

MLST8

Gene Name

MTOR associated protein, LST8 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199173.1	2752	Intron			NP_001186102.1
NM_001199174.1	2752	Intron			NP_001186103.1
NM_001199175.1	2752	Intron			NP_001186104.1
NM_022372.4	2752	Intron			NP_071767.3
XM_005255475.3	2752	Intron			XP_005255532.2
XM_005255478.2	2752	Intron			XP_005255535.1
XM_005255479.2	2752	Intron			XP_005255536.1
XM_017023548.1	2752	Intron			XP_016879037.1
XM_017023549.1	2752	Intron			XP_016879038.1
XM_017023550.1	2752	Intron			XP_016879039.1
XM_017023551.1	2752	Intron			XP_016879040.1
XM_017023552.1	2752	Intron			XP_016879041.1

Gene

PGP

Gene Name

phosphoglycolate phosphatase

There are no transcripts associated with this gene.

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