Product Details

SNP ID

rs201091044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2208574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCCTCCCGCGGCTGGATGTGG[A/G]GCTGCGCCTTCTCGGGGGACTCCCA

Phenotype

MIM: 612190 MIM: 172280

Polymorphism

A/G, 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	1179	Intron			NP_872369.2
XM_005255263.4	1179	Intron			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	1179	Missense Mutation	AGC,GGC	S275G	NP_001186102.1
NM_001199174.1	1179	Missense Mutation	AGC,GGC	S275G	NP_001186103.1
NM_001199175.1	1179	Missense Mutation	AGC,GGC	S274G	NP_001186104.1
NM_022372.4	1179	Missense Mutation	AGC,GGC	S275G	NP_071767.3
XM_005255475.3	1179	Missense Mutation	AGC,GGC	S300G	XP_005255532.2
XM_005255478.2	1179	Missense Mutation	AGC,GGC	S281G	XP_005255535.1
XM_005255479.2	1179	Missense Mutation	AGC,GGC	S281G	XP_005255536.1
XM_017023548.1	1179	Missense Mutation	AGC,GGC	S209G	XP_016879037.1
XM_017023549.1	1179	Missense Mutation	AGC,GGC	S209G	XP_016879038.1
XM_017023550.1	1179	Intron			XP_016879039.1
XM_017023551.1	1179	Missense Mutation	AGC,GGC	S171G	XP_016879040.1
XM_017023552.1	1179	Intron			XP_016879041.1

Gene

PGP

Gene Name

phosphoglycolate phosphatase

There are no transcripts associated with this gene.

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