SNP Links for Protein (Select 767948207) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150800950 (GRCh38)
7:150498038 (GRCh37)
Canonical SPDI:: NC_000007.14:150800949:G:A
Gene:: TMEM176B (Varview), TMEM176A (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150800950G>A, NC_000007.13:g.150498038G>A, XM_011516376.4:c.18G>A, XM_011516376.3:c.18G>A, XM_011516376.2:c.18G>A, XM_011516376.1:c.18G>A, XM_011516378.3:c.18G>A, XM_011516378.2:c.18G>A, XM_011516378.1:c.18G>A, XM_047420570.1:c.18G>A

Select item 142382016518.

rs1423820165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:150803422 (GRCh38)
7:150500510 (GRCh37)
Canonical SPDI:: NC_000007.14:150803421:C:G,NC_000007.14:150803421:C:T
Gene:: TMEM176A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.150803422C>G, NC_000007.14:g.150803422C>T, NC_000007.13:g.150500510C>G, NC_000007.13:g.150500510C>T, XM_011516376.4:c.359C>G, XM_011516376.4:c.359C>T, XM_011516376.3:c.359C>G, XM_011516376.3:c.359C>T, XM_011516376.2:c.359C>G, XM_011516376.2:c.359C>T, XM_011516376.1:c.359C>G, XM_011516376.1:c.359C>T, XM_011516378.3:c.359C>G, XM_011516378.3:c.359C>T, XM_011516378.2:c.359C>G, XM_011516378.2:c.359C>T, XM_011516378.1:c.359C>G, XM_011516378.1:c.359C>T, NM_018487.3:c.308C>G, NM_018487.3:c.308C>T, NM_018487.2:c.308C>G, NM_018487.2:c.308C>T, XM_024446824.2:c.308C>G, XM_024446824.2:c.308C>T, XM_024446824.1:c.308C>G, XM_024446824.1:c.308C>T, XM_047420570.1:c.*603C>G, XM_047420570.1:c.*603C>T, XP_011514678.1:p.Ala120Gly, XP_011514678.1:p.Ala120Val, XP_011514680.1:p.Ala120Gly, XP_011514680.1:p.Ala120Val, NP_060957.2:p.Ala103Gly, NP_060957.2:p.Ala103Val, XP_024302592.1:p.Ala103Gly, XP_024302592.1:p.Ala103Val

Select item 142281370119.

rs1422813701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150804466 (GRCh38)
7:150501554 (GRCh37)
Canonical SPDI:: NC_000007.14:150804465:C:A
Gene:: TMEM176A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150804466C>A, NC_000007.13:g.150501554C>A, XM_011516376.4:c.711C>A, XM_011516376.3:c.711C>A, XM_011516376.2:c.711C>A, XM_011516376.1:c.711C>A, NM_018487.3:c.660C>A, NM_018487.2:c.660C>A

Select item 142001790020.

rs1420017900 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:150804367 (GRCh38)
7:150501455 (GRCh37)
Canonical SPDI:: NC_000007.14:150804366:G:
Gene:: TMEM176A (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.150804367del, NC_000007.13:g.150501455del, XM_011516376.4:c.612del, XM_011516376.3:c.612del, XM_011516376.2:c.612del, XM_011516376.1:c.612del, NM_018487.3:c.561del, NM_018487.2:c.561del, XP_011514678.1:p.Leu204fs, NP_060957.2:p.Leu187fs

dbSNP