Product Details

SNP ID

rs199868077

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19201711 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGAGCAACCTGGTGCCCGCTGAC[C/T]CTGAGTGAAGGCCGCCTGCCGGGGA

Phenotype

MIM: 616601 MIM: 608719 MIM: 603200

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BORCS8 PubMed Links

Gene Details

Gene

BORCS8

Gene Name

BLOC-1 related complex subunit 8

There are no transcripts associated with this gene.

Gene

BORCS8-MEF2B

Gene Name

BORCS8-MEF2B readthrough

There are no transcripts associated with this gene.

Gene

NR2C2AP

Gene Name

nuclear receptor 2C2 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300945.1	1110	Intron			NP_001287874.1
NM_176880.5	1110	UTR 3			NP_795361.1
XM_011527688.2	1110	Intron			XP_011525990.1

Gene

RFXANK

Gene Name

regulatory factor X associated ankyrin containing protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278727.1	1110	Missense Mutation	CCT,TCT	P237S	NP_001265656.1
NM_001278728.1	1110	Missense Mutation	CCT,TCT	P236S	NP_001265657.1
NM_003721.3	1110	Missense Mutation	CCT,TCT	P259S	NP_003712.1
NM_134440.2	1110	Missense Mutation	CCT,TCT	P236S	NP_604389.1
XM_005260134.4	1110	Missense Mutation	CCT,TCT	P259S	XP_005260191.1
XM_005260135.3	1110	Missense Mutation	CCT,TCT	P259S	XP_005260192.1
XM_005260136.4	1110	Missense Mutation	CCT,TCT	P258S	XP_005260193.1
XM_005260137.4	1110	Missense Mutation	CCT,TCT	P258S	XP_005260194.1
XM_006722930.3	1110	Missense Mutation	CCT,TCT	P258S	XP_006722993.1
XM_017027415.1	1110	Missense Mutation	CCT,TCT	P259S	XP_016882904.1
XM_017027416.1	1110	Missense Mutation	CCT,TCT	P237S	XP_016882905.1

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