Product Details

SNP ID

rs143187530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35809156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTCCCCATTCCACCCACCCCAG[C/T]GCTGAAGATCCATGTCTCCTCTACC

Phenotype

MIM: 609997 MIM: 108961 MIM: 605731

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM221B PubMed Links

Gene Details

Gene

FAM221B

Gene Name

family with sequence similarity 221 member B

There are no transcripts associated with this gene.

Gene

HINT2

Gene Name

histidine triad nucleotide binding protein 2

There are no transcripts associated with this gene.

Gene

NPR2

Gene Name

natriuretic peptide receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003995.3	6904	Missense Mutation	GCG,GTG	A996V	NP_003986.2
XM_005251478.3	6904	Missense Mutation	GCG,GTG	A999V	XP_005251535.1
XM_005251479.4	6904	Missense Mutation	GCG,GTG	A670V	XP_005251536.1
XM_011517890.2	6904	Missense Mutation	GCG,GTG	A670V	XP_011516192.1
XM_011517891.2	6904	Missense Mutation	GCG,GTG	A670V	XP_011516193.1
XM_011517892.2	6904	Missense Mutation	GCG,GTG	A670V	XP_011516194.1
XM_011517893.2	6904	Missense Mutation	GCG,GTG	A670V	XP_011516195.1
XM_011517895.2	6904	Missense Mutation	GCG,GTG	A531V	XP_011516197.1
XM_017014745.1	6904	Missense Mutation	GCG,GTG	A670V	XP_016870234.1
XM_017014746.1	6904	Missense Mutation	GCG,GTG	A667V	XP_016870235.1
XM_017014747.1	6904	Missense Mutation	GCG,GTG	A667V	XP_016870236.1
XM_017014748.1	6904	Missense Mutation	GCG,GTG	A528V	XP_016870237.1
XM_017014749.1	6904	Missense Mutation	GCG,GTG	A528V	XP_016870238.1
XM_017014750.1	6904	Missense Mutation	GCG,GTG	A528V	XP_016870239.1

Gene

SPAG8

Gene Name

sperm associated antigen 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039592.1	6904	Intron			NP_001034681.1
NM_172312.1	6904	Intron			NP_758516.1

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