Product Details

SNP ID

rs2306630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:35855337 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTGGTCTTAGGTGCCTCATATACA[A/G]AGAGAACCTTGTTTTTCAGCTTGTT

Phenotype

MIM: 601574

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HEATR9 PubMed Links

Gene Details

Gene

HEATR9

Gene Name

HEAT repeat containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321395.1	1531	Missense Mutation	TCT,TTT	S440F	NP_001308324.1
NM_152781.3	1531	Missense Mutation	TCT,TTT	S480F	NP_689994.2
XM_005278233.2	1531	Missense Mutation	TCT,TTT	S446F	XP_005278290.1
XM_005278235.1	1531	Missense Mutation	TCT,TTT	S406F	XP_005278292.1
XM_006721802.3	1531	Missense Mutation	TCT,TTT	S298F	XP_006721865.1
XM_011524586.2	1531	Missense Mutation	TCT,TTT	S446F	XP_011522888.1
XM_017024424.1	1531	UTR 3			XP_016879913.1

Gene

TAF15

Gene Name

TATA-box binding protein associated factor 15

There are no transcripts associated with this gene.

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