Product Details

SNP ID

rs145550034

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:150801621 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACACCCACATCGATGTGCACATCC[A/G]CCAGGAGTCTGCCCTGGCCAAGCTC

Phenotype

MIM: 610334 MIM: 610385

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TMEM176A PubMed Links

Gene Details

Gene

TMEM176A

Gene Name

transmembrane protein 176A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018487.2	284	Missense Mutation	CAC,CGC	H24R	NP_060957.2
XM_011516376.2	284	Missense Mutation	CAC,CGC	H41R	XP_011514678.1
XM_011516377.2	284	Missense Mutation	CAC,CGC	H41R	XP_011514679.1
XM_011516378.2	284	Missense Mutation	CAC,CGC	H41R	XP_011514680.1
XM_017012393.1	284	Missense Mutation	CAC,CGC	H24R	XP_016867882.1

Gene

TMEM176B

Gene Name

transmembrane protein 176B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101311.1	284	Intron			NP_001094781.1
NM_001101312.1	284	Intron			NP_001094782.1
NM_001101314.1	284	Intron			NP_001094784.1
NM_014020.3	284	Intron			NP_054739.3
XM_006715933.3	284	Intron			XP_006715996.2

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