Product Details

SNP ID

rs201684988

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:48029303 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGAGGCCACGTGGTTGAGGCCG[A/G]CGAGCCCAGGGAGGCCGGCCAGGCC

Phenotype

MIM: 616591

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZBTB7C PubMed Links

Gene Details

Gene

ZBTB7C

Gene Name

zinc finger and BTB domain containing 7C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039360.2	2530	Missense Mutation	GCC,GTC	A606V	NP_001034449.1
NM_001318841.1	2530	Missense Mutation	GCC,GTC	A606V	NP_001305770.1
XM_005258229.4	2530	Missense Mutation	GCC,GTC	A606V	XP_005258286.1
XM_011525861.2	2530	Missense Mutation	GCC,GTC	A655V	XP_011524163.1
XM_011525863.2	2530	Missense Mutation	GCC,GTC	A615V	XP_011524165.1
XM_011525864.2	2530	Missense Mutation	GCC,GTC	A615V	XP_011524166.1
XM_011525865.2	2530	Missense Mutation	GCC,GTC	A615V	XP_011524167.1
XM_011525866.2	2530	Missense Mutation	GCC,GTC	A615V	XP_011524168.1
XM_011525867.2	2530	Missense Mutation	GCC,GTC	A615V	XP_011524169.1
XM_011525869.2	2530	Missense Mutation	GCC,GTC	A614V	XP_011524171.1
XM_011525870.2	2530	Missense Mutation	GCC,GTC	A606V	XP_011524172.1
XM_011525871.2	2530	Missense Mutation	GCC,GTC	A606V	XP_011524173.1
XM_017025605.1	2530	Missense Mutation	GCC,GTC	A655V	XP_016881094.1
XM_017025606.1	2530	Missense Mutation	GCC,GTC	A615V	XP_016881095.1
XM_017025607.1	2530	Missense Mutation	GCC,GTC	A615V	XP_016881096.1
XM_017025608.1	2530	Missense Mutation	GCC,GTC	A614V	XP_016881097.1
XM_017025609.1	2530	Missense Mutation	GCC,GTC	A606V	XP_016881098.1

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