Product Details

SNP ID

rs12956303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:48029315 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTTGAGGCCGGCGAGCCCAGGG[A/T]GGCCGGCCAGGCCGGCGGCCCAAGG

Phenotype

MIM: 616591

Polymorphism

A/T, Transversion 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	2518	Missense Mutation	CAC,CTC	H602L	NP_001034449.1
NM_001318841.1	2518	Missense Mutation	CAC,CTC	H602L	NP_001305770.1
XM_005258229.4	2518	Missense Mutation	CAC,CTC	H602L	XP_005258286.1
XM_011525861.2	2518	Missense Mutation	CAC,CTC	H651L	XP_011524163.1
XM_011525863.2	2518	Missense Mutation	CAC,CTC	H611L	XP_011524165.1
XM_011525864.2	2518	Missense Mutation	CAC,CTC	H611L	XP_011524166.1
XM_011525865.2	2518	Missense Mutation	CAC,CTC	H611L	XP_011524167.1
XM_011525866.2	2518	Missense Mutation	CAC,CTC	H611L	XP_011524168.1
XM_011525867.2	2518	Missense Mutation	CAC,CTC	H611L	XP_011524169.1
XM_011525869.2	2518	Missense Mutation	CAC,CTC	H610L	XP_011524171.1
XM_011525870.2	2518	Missense Mutation	CAC,CTC	H602L	XP_011524172.1
XM_011525871.2	2518	Missense Mutation	CAC,CTC	H602L	XP_011524173.1
XM_017025605.1	2518	Missense Mutation	CAC,CTC	H651L	XP_016881094.1
XM_017025606.1	2518	Missense Mutation	CAC,CTC	H611L	XP_016881095.1
XM_017025607.1	2518	Missense Mutation	CAC,CTC	H611L	XP_016881096.1
XM_017025608.1	2518	Missense Mutation	CAC,CTC	H610L	XP_016881097.1
XM_017025609.1	2518	Missense Mutation	CAC,CTC	H602L	XP_016881098.1

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