Product Details

SNP ID

rs139547956

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:24361009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGGCTTCGGAGGCAGAGGCGAA[A/G]GCTGAGCAGAGAAGTTCAGGATGGG

Phenotype

MIM: 608317 MIM: 615826

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GRHL3 PubMed Links

Gene Details

Gene

GRHL3

Gene Name

grainyhead like transcription factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195010.1	1156	Intron			NP_001181939.1
NM_021180.3	1156	Intron			NP_067003.2
NM_198173.2	1156	Intron			NP_937816.1
NM_198174.2	1156	Intron			NP_937817.3
XM_011541869.1	1156	Intron			XP_011540171.1
XM_011541870.2	1156	Intron			XP_011540172.1

Gene

STPG1

Gene Name

sperm tail PG-rich repeat containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199012.1	1156	Missense Mutation	CCT,CTT	P257L	NP_001185941.1
NM_001199013.1	1156	Missense Mutation	CCT,CTT	P257L	NP_001185942.1
NM_001199014.1	1156	Missense Mutation	CCT,CTT	P165L	NP_001185943.1
NM_178122.4	1156	Missense Mutation	CCT,CTT	P210L	NP_835223.1
XM_006711025.2	1156	Missense Mutation	CCT,CTT	P257L	XP_006711088.1
XM_011542403.2	1156	Missense Mutation	CCT,CTT	P289L	XP_011540705.1
XM_011542404.1	1156	Missense Mutation	CCT,CTT	P257L	XP_011540706.1
XM_017002768.1	1156	Missense Mutation	CCT,CTT	P210L	XP_016858257.1
XM_017002769.1	1156	Missense Mutation	CCT,CTT	P165L	XP_016858258.1
XM_017002770.1	1156	Missense Mutation	CCT,CTT	P165L	XP_016858259.1

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